id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source 86745687-f938-469f-90e7-189a42d5c0fb CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08d29408-776b-41fe-bc0d-e2a5e06e966e CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf45838-7e86-41cc-9f3b-da7db935f471 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d226f31-dbd5-4025-ad67-8617e436423e CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49fb820-e255-4689-beaa-b38d586a7ca1 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6451248-8846-4a96-9589-01452318e791 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0586985a-114d-4108-bc3f-7a49ea5b5da3 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a00ad32-5ef4-4542-95b0-5e006840e915 CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00870fdc-9ea3-4bd9-a9e2-482538f6ba07 CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3047462-d0b7-4382-aa08-2a5532face05 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c63f07-d159-4c95-9e63-dbcf6c1490bc CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f330c403-c4fb-4248-8416-4beb5a66fb92 CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8edf07ac-e103-44fc-b0fb-291a911bbf1e CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13e4d1d3-6559-4da2-9239-a036d49a7556 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d95cbb0-31e7-4b51-a1fc-1d837e09875d CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1a9b6c-36e0-48ff-b9a3-fddb27949c91 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c1c708-8d2c-42b6-9191-3df89cab292c CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40575e71-7665-4d35-8233-cea98647160d CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1cb2cf-b997-4869-a233-2a18fefd1731 CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd73257f-6de2-47e0-bcb8-b5bf1cd94404 CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1757b98-e506-47b1-a7f8-d9e3c8cb1214 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f17675ed-c0e0-4f80-bf7a-cc2989f8ca46 CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a43405-16dd-40f3-9fd6-daa2f096cfb4 CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 858f6b0d-e25c-41ee-bd6b-91bc77cca6ae CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154e65fd-3cbb-4699-9012-fcf993eeaf27 CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 310bebf4-afa4-4389-bd8b-43519a97b412 CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23384cb-7ce5-4e71-a149-719741a9f0e1 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca82ecd3-42ec-4fa3-80d4-ec6e3ad2b857 CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e90f34-3545-4ed7-943e-6d596cfaf9c9 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a105cc02-2a14-4fed-8bb8-0b2112a74457 CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9503409-7211-4bea-a6ca-f59e318078d4 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e40bdd4f-84c3-4ea5-80ea-a5ea3525715c CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af02b981-3e1b-434e-9014-e5d13ae5f962 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cad1316-24fc-4884-81cb-d6197f33777e CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed75988-65b3-42d1-87f9-2facede68d4c CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a1c6898-d749-4c54-bb91-b8052ed052b7 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17ebddf-c51b-47b2-94ff-3ccc9cf557c7 CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52e301ef-0d9b-4247-a613-80cdf23ffaa5 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a6aaa6-7565-4088-b1f2-42d108c2b7f0 CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1db64347-6986-4561-ae84-89aa556d8fda CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb86a9e-2d84-4b98-9cb1-f8b3e09f4cfd CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 813c1c1f-d27f-4a51-8c1e-ecc8300f090f CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1948fc9b-7d7f-4917-a86b-048af95ee5cc CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bef08fe-f2ef-47f7-9e9c-ac22978a9521 CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416f7b52-dfe1-4348-8d72-5a5da1b0dabd CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19d45f8d-6433-4dda-8c6e-af1d79fe444a CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911d6198-d507-4fb8-84b2-05a4e74a6fe0 CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fbc06b0-ef1e-4003-aa53-63665362e3ce CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd166cba-d37d-454d-8a8b-41ce9d803962 CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb88b3ce-2e2e-4758-a594-8f999044cc9d CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b474932d-a0c4-4141-9a36-36fdaaab2cad CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b92dd63e-31fb-463d-a5e5-29a2f1b77b95 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27699813-2244-4263-965f-1a4538190744 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32d555af-88de-411f-97e7-7525915417db CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587832cf-f464-483d-8685-cd585c2bbd6a CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 254fb666-1edf-457f-be93-21f0da411f30 CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f8525a-e1a2-4364-afd2-7af342f3bef8 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dbc6860-dc5e-4f88-95a9-794e252ac0ec CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d001d7b6-30c0-420a-875f-b90c36e56176 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5b40225-40de-4200-a79f-dd2013b95377 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d2a6ba-a1aa-4888-b7a8-2ef2d4e0d71c CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1587d004-456b-46ae-97e0-d859e3460d74 CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1158398d-33c6-4453-a75a-5f698d131eb6 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 408ff51c-5f3b-4548-9550-dfae18529151 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c299bf25-c5ae-45e9-9e88-8a4269518d4a CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48f94902-1b17-4c64-b733-a7603528bbc0 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230f68a2-140d-423a-924e-2dcc496a3c98 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4de203c5-f359-4dee-9a2d-2efbf43855a1 CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71cfa2b-0dac-4b57-be00-5fadc4b0dee2 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db0a2a14-bb0d-429b-9387-0ca9a2690ddf CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1f6c15-9ab0-4969-abb4-58069b5d47b5 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c553eb12-f35c-4aac-b298-4b8a0c2bf8f8 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82b962f-3728-4c02-baaa-13a807a50d50 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3181f989-9ef4-42d5-9c82-c178e4213c1b CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff83831b-c559-462d-be02-491edfc8f2f5 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f32c14fc-bf0b-426c-85f8-b83d04ae3b05 CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f86a87-6fd2-4ca0-98c3-3067d106cb8c CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8728fe-a278-4133-833d-5bc2345510dc CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a220117c-6d41-4ed0-975d-90956197b5cb CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd9a788f-8442-4dc3-a553-91726c04c27f CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5bc5a8-a0b6-4f9a-a33f-e0f4bb6a2407 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fa87913-9fc8-4746-8aa1-fa9b9243dac1 CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b45673-ab7e-4549-88ac-af30e230e902 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c92ee04-875d-40e7-881c-d912e6210e93 CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4db2e4-a40b-4183-aed6-8e3282aa09c3 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb5d6601-d568-4af7-8b51-9a00b73fc579 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97994541-6851-40e9-b260-e06b2c9d344a CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68f15e78-4307-40fc-9a71-b72559edd6a9 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4f6643-c455-42ba-a7cf-8cffc8fa60e5 CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dfce293-59cb-4bda-b818-100c6ee08a1c CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823f8726-10c8-4ae3-b922-d908425739f4 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 174b4639-4aa8-45ce-8e83-007ceb3d11ae CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b7b25d-c3ac-4a54-a0f9-570c2e670986 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa03a051-a2c4-4d2c-b3e1-2b349f843e97 CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02bdb1a6-ddc9-442d-8bf0-52ca7ce6527f CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57057524-7b41-4c03-9ebd-1461287fc65d CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3326f4b-37d6-4b99-a02d-e3fc26b9378f CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b222118-696c-43b5-bd03-5088c3ce2390 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24f7754-b49a-46dd-852e-af3bc3ae16a0 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e468613f-e8c0-4cf5-8a22-f98e678c05ec CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00413a16-e944-467a-adde-0b0edade81ed CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f877f9f9-494a-4fb9-833d-0911044c72fb CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4240f40-57d7-4286-92bb-5db5ff72f85e CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 680181c9-ea19-4bf0-9b5b-cd541fa0c388 CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc3c3f2-78c7-4244-8d31-04d491131ee5 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b2c588c-050f-4014-a8de-48120e74cad3 CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5162b1-b0a0-4209-b6e4-559a2e75d961 CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36cc3bac-7c39-43ab-95e5-3db5d29272a2 CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80f64e8a-91e6-4e65-af7c-fef9608aaf79 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05543b59-063c-40db-b65f-d838b29dccda CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2c30e4-5053-4229-bdbb-495753078c66 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f04c0f30-f439-49e2-a94e-b4376d326ba8 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f804c7b-f7fd-449b-aaa0-145462427701 CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0c67ec7-404f-45a5-89f0-b9ffede7bc8f CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a3fab5-a34e-4141-a7d7-77d257c19553 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e2cc38e-9298-4ffe-a94d-38e76c7da715 CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041d3dfa-214b-4603-8d0a-eded91f6ab76 CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12781041-828e-4606-85b0-32668cf1a118 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9376b5ed-12a4-4ccc-97b5-df821ec98ade CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0ad00c7-47f2-4630-9717-7d5f57495837 CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b78a1250-b22b-4ab4-baa0-b718971e0e6f CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef029a1-076f-47a2-9b49-156d003403bb CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b88e1c1-fa90-4ae8-b4bf-1c70e927ae96 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ee2368f-ce7c-4608-8386-ef55a3363edb CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1322aeb6-5962-440e-ad67-b01c1a6b57b3 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f41c88d-8864-4722-83c0-28a46828d819 CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091190b9-3fd6-4f8b-a0d5-00a9a421d14a CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a98ab78e-7a4b-4880-9b19-39ed9c7dd542 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f889d7ec-96b0-4a29-a248-ed0bcb491755 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b197d2c-1d25-4a57-927a-33d6876af716 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b23a02-cc41-4386-89ab-7657b3c1ce6d CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852a2990-1a90-417e-88c0-baf3e6cd3ad1 CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12ba327-1670-4fb5-a659-500d66d1d57e CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5543938b-2c3f-4444-a9e8-32245b5e6d1b CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f775a70c-65da-42d6-98e0-6f7d24dbe8b0 CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c5441d-c324-48ba-a898-9f60ef8fd975 CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc6eb2a-249d-4f13-8f0f-5a8912203116 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a74e5f62-b6c1-430c-bd8d-c8d2c0f68656 CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85d4b66-959d-42b8-a91f-7cb0dabb0b2c CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9130d7dd-c52a-43a7-a043-d0fc15ad1e66 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7302060b-ba7b-4475-9b51-78759995e727 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a8a6efc-bc35-4e2b-aa69-a980a2bd0e32 CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b28360-0626-4328-975b-aef63b62fb33 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d02ebab3-f8f2-4cdb-ade6-fdefaf317b16 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb42f3a-1880-44a0-b82d-f42dec1a4eaf CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ddb9c8e-4b19-4691-84e1-b5bbadda2baf CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97df8948-5e33-4c07-97c8-b05034d3f15c CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abbbea86-3f2c-46ce-9c6f-621c6f357178 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d5d685-104f-4e52-8027-3603f99b4e77 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b642c06-5a4d-4fcd-95e5-a528321de27e CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2978728f-b2b5-4e3b-aaa6-f50cb570f4e8 CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d937e74e-111c-459b-8d4b-752a5c383938 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ccb8f6f-6186-4750-a1a2-e595cdc51be8 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 782c604e-6b24-4cc4-aed1-30344f67304a CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5f155e-5802-4ff1-9631-3de620dc0749 CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c72f994d-ecd6-4c5c-9454-5a8d7a374c0d CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6c81a8-f5a6-41c8-9a83-872f8b4e5a87 CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdfdc7a-b2b4-4e44-a938-28078b39820e CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723f66c0-6767-4beb-9ecc-f4dc40e830bd CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2529d3bc-a329-4b9b-bddc-af4b63ba709d CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1a6a67-df5c-4c8c-ae29-42f306f49d34 CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cb7ef76-e670-45e0-b750-017e98c2edda CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f145ec-e4ba-4e68-aa13-f47f5660c404 CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c4595a-2590-4063-890c-0673bd5180db CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f555d1b1-10af-48d1-850c-0191b2c1d2ac CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f8bc949-ee92-474f-9a9c-a7bed23d6916 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cded3e6d-51b2-44f3-ae6b-3914b2cc9a73 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40126039-78e8-46bb-8927-9d8902319b8e CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d12e1f01-c2df-4a71-b0e4-bca3ac421295 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a159569-e0be-4376-84af-2e1ce7a47486 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84427bf1-ebbe-49b6-affb-88be63d2dfeb CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 872320b6-321c-4de3-aaa6-6e9a38535363 CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5733fcc1-79ac-43bc-a743-e8f213379adb CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbf90a9e-9afd-454f-89fd-7bfb50c96454 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cbef2b6-fb62-4696-8c96-1fb63af42184 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16590025-91f9-4538-9178-0b0d7b396ab0 CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49eba395-25d5-49ee-a9ed-09cfe2ac4903 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 814ff9bd-bd51-4c3e-8c06-256d2a490908 CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ee2609-916a-452f-9ac9-8e5000812dfd CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 144f0e4b-91cd-4ae7-a308-f996dd5ded33 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ea2bf7-ccab-4ac0-b058-158bd955e9a3 CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3be0df-005c-4ee8-9a52-83807f2919ce CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d15b688-52f5-4415-843a-1ceb3fa1e9aa CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3786e48-f0ec-4564-a4e6-17a202c469f9 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b00fb4a-09d5-42dd-a310-47cd440aba33 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4580b76-3a82-4f3e-bf3b-724c0871a71d CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced25642-f2db-4097-a360-6880eecdfd83 CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d99bb7f1-5c2c-4b1e-939f-9f7b4a903821 CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8966f93b-5b1b-4cdc-b69a-328a0e2747aa CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 875f900f-7eec-43f1-8c37-a51b2e6e141d CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fd5259-04cb-4f62-9c35-e548255556e3 CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 137e62aa-9a09-4dd4-a687-c48b3fdbc750 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c14f6e0-14c7-491e-a9cc-b4db50f4d1e4 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f81f25-4314-463e-a002-5f8c72ef8b74 CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff672019-9ab3-4312-a382-717a737b0d38 CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10755092-be77-46fd-98b8-ce8c9fc3156a CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e1dfa3-f852-4791-8693-95286647d48b CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2bd22d-5021-4b6e-9b5b-277828995ee5 CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ac7a69-e0ac-4522-994d-cbaa70e31b2b CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfef42b6-a886-41ee-a5a9-2452e1a760b6 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4669df-6abd-4ca8-988b-cd983a30b78e CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 148771b6-1446-4989-8e85-106702e1fa78 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fe3a19-30a0-4f9a-b533-be095bb28633 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c72e98fb-27c7-4715-850a-7b5def7fc50b CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c168879b-ce84-4202-8911-eb5408b2a7e2 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fa36fe1-c3a6-4d38-bbab-37e4b2953a64 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721c2679-66be-4810-a3f6-20076cfbf0a8 CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66c7bde5-201e-4e6a-b397-c1622879b5c9 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de67c55b-0c64-408f-a525-cf61ef895dac CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc9ecce9-9774-475e-9150-caebf9dbeff2 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c043393-ee7b-49ff-ad13-c810649de30a CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e264598-458f-4968-9a5c-c8246345bf7b CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a780056-5c8d-440b-b293-72a545998870 CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8e9603f-2d70-41bb-88d7-0d089b87479f CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534b25d1-d1d3-4f7f-858e-c0c2ef6121d4 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0995a18-01cc-4b9d-8b64-43d813583b49 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a350b8f-226a-47b9-a806-b4da626c513e CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ac87f71-1c10-4024-be35-cd7a2ace8d79 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0934fd02-a45b-4443-b5d3-eb473db591f3 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ba8bd77-2615-49ab-806a-311b4eb70e47 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91da7575-dfd7-4101-80ef-8e3be8431362 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3b9cf6a-d43c-4df9-a2e5-3a9d5cf96e97 CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bdd8baf-1219-4978-a046-2b92bfc876ad CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce68f5ed-d223-4e6b-ae6a-3620357ba546 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880c9ca2-1a41-4fc6-9eba-5a4efeec6e2e CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85f9bb1e-d015-4074-b716-63dcc92e8ed8 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3173a6db-76e2-4e91-8f7d-e757a659dad6 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce53e943-067e-4d16-9c1b-1c60a4f48c69 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8e2c7b-845f-4095-b439-3a2cb71f1cbb CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0094a23f-90e5-4e75-922c-93b7e443513c CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fccf5b15-2024-4139-bb75-e5657b645949 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ea0c8e-bca9-4529-86d9-45212cda3c5c CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393dbaf5-e4cf-4f2c-8c3c-3ee85f7411f8 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a20e169-55c5-4fe0-82fb-945bb1d7dafd CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2870db8b-d98f-49b2-8080-f912a95ff59d CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34706849-e38a-4f77-8624-840315d62752 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b65061-8581-4e8c-911c-d79fad1b1ebe CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3411c1e2-0136-4001-b52b-d27d7ff1c6af CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c79979-bfd9-41e1-bc5c-d29dd2a38f70 CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdb29f17-a509-4383-a76e-6e77b549e4a1 CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a38634e-4699-4d4b-90ae-3f0116273ba5 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27360bbd-0ad2-4416-9587-17828e8200c0 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99336245-a5d1-4225-8b42-5d71f90675a6 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f15fe54b-33e0-47f8-b4a5-5974f9489e0b CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d96aee-63b8-444e-a2bf-50ad4bb1f3ae CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7269774-a18f-4ca1-9222-c3b7abed7bd8 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb35fbd7-68d5-49c6-92ac-a9d4fb3f1b9c CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c3b909f-5748-4d60-a013-daffbcf8f33f CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a5567f-6856-4fcf-baa9-d704aad1c998 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08d925ec-da2b-4a86-874c-b53b2a0297c8 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08ca52b-f79d-42b3-ba5b-77907f4d79ef CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 000ed11f-302e-4437-b2a3-b890a71978e6 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf45e466-c63e-4c3d-ab56-616de776d975 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c32eaa65-2d88-47e7-aebf-e21bc767c305 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad66bad4-3833-4b00-89ee-4c42894399f5 CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34984b4c-819c-427f-89ae-43b627f03d51 CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7c29d7-4e3d-4df1-aefb-a3ac6a170fbd CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8a3b907-dfc0-41fb-b0b9-4bec9a1686a1 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b91885-d4e2-425c-a86d-a8163eebc195 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edb8c85c-3e05-431f-8138-c8de4722c6d2 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5201ef95-c9c4-4f9c-b922-2e2569e7e806 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 362aa131-850d-40ff-9862-4608dc5415de CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4146dd7-e448-4269-91a1-97c12f4e2386 CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 960858f0-bdd9-43f1-8e81-4b25161a75a9 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385286d2-be68-47d2-aeb9-551341faf582 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da1ce0ad-7263-465d-9312-6fab0cc17637 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234bf7f2-1302-4e7e-b7bd-bcbeffb14862 CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ed4a3c4-26e8-4450-b30f-81a0b867fe4a CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eaa4ee9-d337-487e-b1d8-6ba41240050b CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7679549b-6052-491f-ab2a-0cfd65fd18ba CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1f859b-5307-4956-acf6-c44ed481f8e0 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56f94a5f-f9f0-4999-b983-20ab23302c19 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ec6340-8b33-42ce-a52b-7206a4fd3097 CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72f77c70-b499-4165-b888-09b701e200c5 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e70cb1-4acc-48d1-a979-4430c1301d9a CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e3595a8-a307-494b-9bcf-7b40916ab3c8 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826db6c9-d692-4167-aec1-606b908629e9 CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43823553-305f-4174-8980-9e7fd5182339 CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f186b11-6e51-4060-b223-563ca3aadc45 CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa43960c-c086-47fe-b36d-c3b00954a54d CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5533a930-6f76-445a-99f4-0a35e20ed3be CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f836dab2-29d1-4f69-8ebf-7b2842c293a4 CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2432a8-2bed-4e95-b1d4-9efa23259147 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f489d3b-98f4-4f6e-8ee2-b173738dacbe CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379222d6-c1ad-42c9-8f95-71446836a7f2 CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32fa4bcb-9601-4514-8dab-d6abf0aac605 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828cb2d5-673c-41fd-944a-9d72729bed46 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c25f7c0a-455f-41d9-875c-7d8afc6baeee CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be3d8e4-cdb7-459e-accc-bc1d116eb0bd CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32153369-536e-4895-9409-a1111dd2a43a CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebaa22d5-6354-4c14-be42-184b7332fec2 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4be0ebdb-936b-4aa4-a9b7-f41829c576b6 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b1b43a-dc7a-43dd-aaab-6af1f34ecbce CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02791b5a-e5e6-4d1d-bc69-8f78354816dc CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b327217-ebf9-4dc2-9d66-5a17450e34e0 CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2756f045-d16e-421c-a108-ed690bab8ba5 CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 368b9ed4-e7b0-4ee0-88c7-859372ce002d CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cbf31ca-62ee-494e-afc8-3b538cb5654b CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847b5311-f235-4f2b-baf0-245e5ec37c17 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79b12497-325a-4115-a356-9c50c6767d51 CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c7e2c8-5499-48bc-bcd5-4901697bc69a CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e75e6699-5be1-405e-a393-2d2d87233ae6 CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4f8407-18dd-4d29-bd55-631d2cd76ca7 CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8cc661e-790c-42a7-b990-44317a32a8d7 CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f408c7be-d763-4ce7-b5c6-5081ea364656 CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa1d9f8-f8a9-4d41-a94f-f259cfec0edd CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea599906-aa81-4291-9190-8a9dacde3790 CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46edccf9-b8ba-47ed-99a8-d24c17edf7e6 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1b8206-70ef-4469-ae3e-aa81a3a6b13c CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 071269a1-9720-4abb-893f-bb84ad9f1839 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90d9f90-2e96-4eb5-a49a-bc5170a40ddb CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 490900ea-0851-4c65-b5dc-0adc3d4a2ed1 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c5e799-0731-4a81-b8bb-d1a26419e089 CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa44c393-cc13-438c-ab8e-f9e92be5d827 CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f037ed09-a899-4e09-a0c9-75460da2a38c CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 298b8530-c5fe-41b9-bb22-27d61e739bcd CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d10387-9429-4a50-9b6e-3d6f20f23a57 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3b49aa0-1c66-40e1-9b47-e6a5344ae511 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1e7f85-7dc4-43ae-be31-0df8a4b233fb CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5f5636f-292a-42c0-84cf-83250f3e8c2a CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34812bf3-17cf-4080-b116-3c67b7def7f9 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6c4bd8f-0376-4417-b7e7-d4dc517be6e0 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e74a65d-5d04-40cb-8cea-a6d40662658f CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 562fc762-5e08-41cb-9254-b59f8ccedbad CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac407da-ced2-4d25-9dcb-e1aefb18abee CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96a72f78-6451-44da-94a2-3ec82ced4224 CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e9b6d4-3fb5-4e36-bf2d-4834623b8ab1 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b7c368a-d2a8-47d3-9fdb-9751c92f3f5a CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1829ae10-f40e-41e7-a29d-29f38ea413ff CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da54dac6-ca4b-41a0-9557-78c58ce7fa54 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3367f3e4-5414-4cbd-addd-4e591c05d132 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 756056bb-0dbc-4543-990f-2b6403ecead7 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65a84c3-0ae3-4fd1-a4e4-54cb0c19bfe2 CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c3b6751-9b18-4855-8570-d288c1b6f08e CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694524a2-ced3-4a7d-a5e9-de896f6a4622 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99ea2140-9a09-4400-8fdc-b581507e1088 CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51006a07-7bf8-455d-bf26-66e739beeba9 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f5c64ef-3b40-4593-b55f-b9e5474b4233 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee07d12-8048-4fff-bfaa-4fa446b36e4d CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a9f95b0-ed16-4ff3-bde7-a356647daf8f CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a83920d-8257-45cb-8208-3d8e29304a21 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8690b8cb-491a-4c35-a774-47e1fdd13710 CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52107ca-7b92-439c-ac9c-db4e92545458 CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a61c5fa4-c62d-4b40-89c8-87970ef08e66 CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf0fea5-348a-42a4-8691-89bf864ce63d CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f1a84ef-050b-43ec-aa77-6758c7568384 CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6470ddcb-1809-4cf5-9cea-44717359ae92 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7321063b-1e38-4691-8c45-2b92fa69df14 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42eba01e-fa22-403e-858b-866a72a7c735 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c656f41c-cb5a-44bf-8867-1da669da02ce CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee14ea2-134c-4261-bccb-8b3a6f8363c6 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c0b5b0e-ea7c-4353-9b9f-68f115c86939 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61f9146-8048-4bac-8e15-8e08de6ab24e CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e759bce2-0658-48a2-8734-d051b92c6948 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b51cafb-1f0a-4dcd-95f6-ba6a904c9a76 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b490ef56-3067-467e-b07d-b2275d62d820 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92564186-6888-4604-8dcb-aa84c521a711 CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67bd4ddf-e66a-4b81-8461-c36e8e0a0031 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50605341-0e17-43eb-920d-fd7cfda3ab46 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6c864b4-b0be-4772-b15d-1ee571b2c234 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f124e7b-c8bb-4815-9206-1a9d95c27617 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1ba1132-9b68-4ecb-a076-bc6c769e3762 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efdd2eb9-66b0-4d89-a303-ced0aa486a46 CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5b37aa2-921b-4a09-a19d-10770bb70072 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f748e480-c2ef-4c30-bcd3-8b12ab507396 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bf0fd33-0217-4838-9801-ef74ed8c3a26 CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e61162-22a1-4977-bcc3-c1eec968bbcd CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0b38a73-c3bb-40fd-a246-0450ecd717d7 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc79a015-cc7d-451c-aa10-5358da3df515 CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b07bab7-55b4-45ba-853f-56ffb95a3473 CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c9afbc-6c67-4e58-bd1f-3237692ae8b3 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c367b72e-bc71-43eb-b7f5-4e4e4a480ca1 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb407dc-f16a-4a4b-9515-8e15de7acb7c CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1801b463-2a43-44ca-b0e4-8d12c831dc51 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8945c19f-ce88-4033-84d0-7ecbaa01a7e6 CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ee4020e-6cc1-43b4-8cdf-b84e59adeb13 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4943d381-3879-44f0-bec4-a03cda732b84 CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7eec31-b37b-4cb6-ad3d-6d2b21f66b5b CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f1dee5-0388-44ce-9428-f23e947e5eef CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b10c0ffa-97d2-4c3a-9a0c-1ed5bb7392a3 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ccf59dd-f241-4a30-9c04-c6ad26c70c7a CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2bf525-baa1-44fc-bbd0-36ae848d4fcf CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3598160a-9b76-49de-8a7c-67f4fe767213 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 478d4973-6b22-4e02-956f-f7b9a525e34d CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2e7470-184a-42aa-bb26-6d53ace25f4b CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca00b5f7-39f8-4491-9351-35144c62533d CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1872a2-0a44-47a7-b448-25117ef2410c CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66a4ca71-c374-4f2a-af6b-78f99af67138 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b2d7b8-3906-43f0-9b1c-6b325e34bb73 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 249c69fe-b096-4386-b277-b273bba33299 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3b81e1-bfdc-4a92-9db7-c606e47272f1 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b873fca4-0c41-4fc6-861f-466964b853a7 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a130915a-77c9-4dc6-86c0-c5d3abad069b CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8e2c62d-e09d-4e1b-acaf-3bbef7ee61bb CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730d682d-e625-4cc8-8693-5fd31ded8f1c CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64e67ddf-09c4-476b-87fa-77cfe0c88bc4 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdb7d93-d515-42d5-bd4a-95cf9abc394b CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a2af27d-0ae0-4976-8b7f-126848def9a4 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a713c74-c5e4-45d9-9fce-67837610f288 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffe0ee20-abba-4b7a-8325-8988599a5399 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3098f27-6cf5-4d41-8587-48b1bf9b3953 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0eebf4e-ac5d-478a-8ddf-9bd10c8bcc8a CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 915d932e-85b3-4721-bc43-3be65ff5d22f CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa59d8e8-f280-43c7-a849-8a1dd3108270 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9902bc21-b83c-4746-9224-2be695d41694 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4600b9f4-84db-4abc-9753-ba7843835bb6 CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585f040d-9675-4d70-98c4-4afc7a52940e CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ab8aeb8-6378-4e7c-b16d-6f8be1febd16 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb69bde6-3455-49c2-b6e4-08e3a008a181 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff535be2-7776-47d3-9594-adeb34ec0b37 CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69ddb9d-6e8d-428b-9429-4dded6dc496c CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ca2d6b-4ab3-416d-910a-6934d99cd2c9 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f37593d-6ddb-4409-8398-71a7db0cc915 CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa6bb7d2-b1c4-42b7-b9ed-5ad1b7a0d89d CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1af1e6b-6ab7-4aa8-8a1f-f3c853d61326 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d605b78e-bbc9-4918-97fc-ab9e5c1b77ef CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54eb42e-a117-4162-a6a1-74ea57d61d0b CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5975aa2c-39ce-4104-bd06-2dccd08da1d5 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0122a9-bec9-47d7-bc3a-efbff8d0f93d CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a43587c9-4594-40c3-aaf9-3fb5a1b19da9 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a299539b-c343-4b4d-94b7-e19891eea17a CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 602dc9a7-e211-4290-9907-afd77c5e87f2 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8389ddb-3468-4934-bea7-6707099984e8 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3338b59a-46f9-4d31-b0fc-ee8faebf3105 CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9636e4e7-a59b-4e86-9092-149519338837 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be812a37-f682-4445-b7fe-10ab50ece419 CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9640c853-0c99-48a2-858e-4dd09474125b CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd03e14-be31-43e0-85c6-8c4133855a4c CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6c3a97-a711-42ff-b0a2-56f1115f5ce1 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 330e2d4c-ac06-41ee-b6b3-b2839fb2b609 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9aebbf-9864-4087-837d-905b1df7b0c5 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6367f1b3-1f65-46a6-b859-c8c72167765a CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446160c2-3069-4f90-acb5-67f2a9944f6f CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 711d6036-6c60-4173-9286-b4eb8c83d700 CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842fecc3-4271-4b36-8c1d-5117aede4bc3 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9b60ac1-9b5f-4c9c-8dc1-51f22fe390da CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226f12c6-8b5d-4b33-9c1c-77c52a34e6d5 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70979b3e-4099-47c2-8ef7-6e80f55abef3 CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820f8943-155c-4e49-93ba-7149742980cc CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4846144-d8c3-4e3a-bffd-ef47691f0eb7 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3198b196-85ae-428e-8292-fe1887afa15d CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd622d98-9a6e-4a36-9a03-4409d9ea2eeb CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d20515-10a9-4520-b381-051cdcb3b115 CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfb62545-ab75-428d-94fc-a3eeebf5d68e CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d24626c-ce34-4ace-8d39-7fd7ff69aa77 CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c81cef8b-a283-4eb5-8a64-747f04c8abe1 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1847c5ec-6e7a-4e09-a297-4a3a8ecd089e CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f54b62f-ca1a-4a6a-96ff-94e2b3084aa4 CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35e5886-96a1-45e4-add8-ecb118a56c83 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39352e68-dcdd-41d6-aac1-f00c4e52f576 CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4285bae-38d4-438a-bdbd-5a8ba6e8cf7f CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1edd3d56-7e35-411a-a8fd-f434f031c75b CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc020068-f75b-4e84-828a-db86cde4da11 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a037d4da-6991-482f-b55a-0a8783436c87 CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b22a264-779a-4b3c-b45a-f5662c0155fd CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ad5c46a-a26f-4442-9cfe-d12fd08306c7 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f6ca5a-2d4a-4980-a712-749856ec5cf3 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e64c611-4174-46ad-8faa-8c81deba5355 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0a74ff-c062-46df-bace-d8fb2e06d358 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c12218f3-9b73-4254-a7dc-ca1ed4e3f6a7 CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db323e97-5b4a-4657-9e09-70ec965c8b4c CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb02eeaa-2c82-455a-a111-217129518a09 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3554e5e6-b039-42cf-8118-fe2025616449 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01fbb7f7-3c19-4c29-b649-333203849cf4 CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667471a7-87eb-48c0-910a-5e0175d37d3b CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de3a319e-06ba-42d3-8f4a-745de91bb5be CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429b2405-9ab3-487a-b8ba-a5e0795d8963 CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0c24c67-d5c7-4839-aeaa-aca6c0db7c95 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359b07e4-b4ef-4412-b177-e5e1f0ece1c7 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5610df4-9939-4e52-90b0-0991baf14bd8 CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9cac196-a726-4f1d-8316-26a1950c4e88 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99e98e50-2064-4973-a6f3-21593e1dfd8e CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e8e784-6b7f-4f79-9389-7b1ee91b673b CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d9573cd-0bf6-4191-ace3-949142e3ae58 CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdd0103-d5ad-44c5-b7c6-37c60696180c CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91ebbdf3-3729-4373-952d-1b659d80a218 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc301da-e4be-491e-9f0a-535387127598 CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b72a32-aed5-415e-9be8-058fd23467ed CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9fe7cb-44c6-4f56-8eaf-c7186042a616 CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 749bd15b-0d36-478f-bdd3-66c4ffbc631a CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7752d49a-a957-48df-a767-48b6da9c9d09 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08ed2033-06f6-4a17-bab0-40c6dd085892 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae544197-7bf2-4780-9070-939eefe9a278 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dc63131-7acc-4fdf-a82d-d2d18fcc36ce CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6a09f2-4cf5-432e-90ac-2d373a3266b0 CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b116a92f-b3d1-4b1c-9733-477aaecb4f25 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94424b27-7156-4af3-a9e7-69daf76ce6df CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8640056-0e47-402f-8ac7-0e235593e21f CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc29719-4089-487f-8711-2f3f70ee24f2 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98836d53-a455-4404-8676-5222f7e19de2 CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab831cd-f75b-45c3-a148-961cb36a504c CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e90ef4-98ee-4604-aea9-9aa1b63bfe35 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798fdc6b-a52a-415a-b945-7c8ebe1dcb6c CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3c17f6a-5c4d-4901-9c68-24272fa13c63 CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac7b34c-4da0-498b-87aa-8c6fa588745f CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3384ae7c-290e-452a-b46e-1e7c7786d2a5 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed869d29-f304-4786-b03e-6cce25ca8113 CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d8ece3-ad62-479a-91df-65462c9458f4 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ffb2e7-407f-4b88-9a74-1206f0e18f37 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02061fa0-7b8c-46a9-941b-ec3583050831 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4057889-c8f4-4c8d-83e3-f0cefec7ac3d CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9594f70-dca3-49d6-8745-5fb57dc9fa6d CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827b0ffd-0223-4247-99e8-4726445ea403 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b899a4c9-3cf1-4c32-b959-b3c39ed5d11f CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893e0cc0-4b00-4ed9-8403-16d3f794a714 CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ee80d31-a486-48b0-9312-94497904e17b CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e32e5ba-c030-4a42-8f4c-22bbf0319f47 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 410e0749-aee4-49bd-99d0-3795c6a25ce5 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd9eb87-b1d2-4bab-99d5-a94e3a53528b CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30f92a3a-f938-456c-84bf-d6e3cb8c79cd CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a49fb23-095a-4e1c-ad62-76abc6e8bb5a CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24295fc9-57d7-43ac-a0d7-00f966eaad70 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b83cb6-e24d-49bc-825a-0891d6ad51a2 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d41014-171f-4047-be2a-51a06a705750 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e36d0ca-5a53-4349-bc11-51ddb3dbeb61 CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8d589ff-0c29-4216-9d77-155cd671e8d0 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0470e7f-1b8a-4553-9397-ce1c74f7080b CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79b4c710-cc25-43e6-b1d0-8074b979e7be CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a433c53c-251b-41c1-af51-d61490494926 CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d33a19c-d693-4a9a-a355-a872d1e414e4 CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38feee78-92a1-42e0-82d4-5fbd24b10c02 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fc306fe-7bcc-4d83-b5f9-f941b2650d51 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c38a23-8051-4c87-bf3d-f8571f6a657b CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c82aebbc-3602-41a9-855c-8727c09ae428 CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca56d8e-73be-44a9-a1ed-96db7580044c CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97e9c60d-302e-4962-8236-50f5f9a6bd79 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb8828c-7b0d-4712-bb70-aefa0478d202 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d91f095-3dbc-4222-9636-5b458daaed2d CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96ec864-bb03-4b8a-aca3-89ecbfecffa9 CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8eeb935-040b-4538-8435-9cdd9ef99625 CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7901bcf1-185b-4e97-a212-b3815ebe8814 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 564a9050-679c-417c-9808-086cddc5ca5d CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9ac960-80af-44dc-9426-6a20903bc0b8 CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3a81423-a15d-44f2-a06b-99f088eca655 CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c74892d-2033-4708-b288-86490fa70438 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dffb94a9-c4c6-4d17-bd9c-2081bee80867 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447a26f2-92b9-4dde-a8de-6877c7e0e48b CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 471e46e8-ac03-48e2-b972-55c8d8452bac CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05478ceb-e9b1-49b2-b781-bcd52d6d019a CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e61f5536-5f71-4cde-9fd7-9f3c18a0082e CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b3ed24-94d9-4a99-baf8-d6f44bc6213b CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d46a64c-2e50-417a-a8c0-adae40f2bc9c CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b73dcb-11db-4e88-854b-22d858ebe55a CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1dab17c-1585-4ba8-bb2f-07111ffe33c2 CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7893d6d-c03d-4095-8686-4fa2eb7064d5 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8abeb8e0-80ac-438a-9612-dd74bd0304ea CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ea962f-a053-46e6-8078-6da373532a17 CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0d52505-2dfb-424e-ad04-4fbaa1a73de3 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2efe9ba-0c7d-44a7-886d-79c964d1665b CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe42de76-2101-4110-a3b8-188a4bf153d3 CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf233cde-fb0b-430b-836b-c320bedfa80a CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d000dda-78d8-4b96-af68-9ee60c4a4e44 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a243d845-5ab0-461c-b0d7-aa4150ad35af CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3939162-6f16-4f90-ab56-6b11b0534d98 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9cd3da-afb1-4649-8f26-d9b0a9dff1e6 CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9ff983f-9000-4634-9d8e-7af905660578 CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0913fea3-9d06-4d95-ab98-4a3b73da3f09 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d59a2d33-ab26-4fe8-9777-dd294f74adb6 CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5263c1b8-17f9-4714-aa84-7ee5e99926d5 CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b58570cb-c66a-4f40-9ad8-3bfeae0b1c34 CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ba0f87-c6ff-470c-9dd3-00cb9f2a0da1 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 586a32d2-bc8c-405a-aa4d-71f9a6609215 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065ab36f-d8d1-4b57-b76f-26aed5aaa78f CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d0abc6-2576-41cb-b4cd-3464e2c7b573 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e8b401-94ed-40e4-9604-63863e1f892b CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec48ae9c-b3dc-4f5a-ab07-41728308de93 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53419f16-95d6-4328-8132-0ad0917ab28f CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf09cd06-0325-47f1-83f4-ef20805c643b CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ca8e33-9147-44e0-85ac-dc6cce3706fb CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d551b44d-af27-4bb7-a048-4727618a88bb CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca2d39e-5a4a-4016-9398-5f2b65045eeb CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e95560a-e2fd-440c-a2ea-26d8cc908a1e CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07dc94db-378d-4543-bc02-1693f504c462 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b05c14b1-3d98-495d-b4db-29ac6ca5da30 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b5c455-1fac-4456-a73d-5cdac771edd4 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86d6d34b-340d-4a9f-8312-c4331576557e CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64693ebc-db46-4cf7-86c9-4f9285ccf397 CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 527335f0-6d37-40f7-a02e-028d1ad49e43 CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 887545ab-a2a8-4a46-9772-407b46359e66 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9a06db1-4a54-4d3f-a10a-e37c3d4cfe21 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e88a11-ec90-42b8-99bc-4bf65426b090 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92dad912-8471-49bb-aefa-1c4a71bb4f82 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb610259-4916-4044-be3c-d31759e80549 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10dbba13-bc23-4572-b29a-5565b382d726 CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fbac78-fa32-4ab7-8567-f2e2b1df26b3 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6491358c-dd98-4add-91e6-cfa5a18cec00 CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457858d6-4698-48d4-8db2-465cd4f7920c CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90f8fe1f-06f2-4f5b-af8f-4ce0fb9a636d CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de878af3-a4ab-46d5-8ab2-98e322cc663a CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56cf351b-9743-4ac5-a1e8-cc63e0098863 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a8c485-a060-4343-9f51-fad1ac13ff35 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 969afe1d-cdb4-4f19-b880-0e2594893e93 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de23f39e-9fbf-4e0e-97c7-4fc41b5ede88 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f3b15c-e825-4d8d-a466-96d1f4d68a3d CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd38d5e0-00c3-48af-813f-235c1da66012 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 692a2165-c37c-4fa2-88e9-784f13abb3e0 CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a49ae72-82e1-49da-afcd-151c7d375a6d CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b8a9fa1-5ebc-4f4e-81b4-263dc655fdd4 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17a493f-59a5-4ad7-a496-1275130b0ee5 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 996522d2-ec5f-4f01-88d1-d99165b9be7b CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fb3607-1b83-4d7e-913b-63a81f21a49d CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69dee1bc-0dfb-4ab9-9711-ef964a44b2dd CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7a8ea2-db11-42b5-911d-7ed9670c7ca8 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e2d4ab6-313d-4bea-a817-e3fc3f1a585a CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd71d3e-8958-4754-a42f-4fc3436be587 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c137162-e9ea-449d-b190-82169e4ca0f0 CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcd4e82-70b2-4ce5-b9e5-98d1c052fd02 CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c9fd797-083e-4576-9046-7011f56f96ea CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ed4ce1-d9cf-4032-bd20-c597f785f04f CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634461fa-a703-4416-a197-3091244443a1 CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044fe3dd-0c69-4abb-97ca-aad7a09f3236 CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1019124-c5b9-465b-afc6-8fd31dcf44a0 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2a4ff7-9918-46d9-b1e7-55c5259f3f4b CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bb8eab4-77fe-408a-ad13-1872538fa552 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d78aa6-0bb6-4efa-a74c-0c1facab1023 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10778482-a65e-47df-bbb7-94f157c0cc9b CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026ed3d7-4aa2-43c9-8227-a7f1a1b2ff6a CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14cd3805-30df-4a33-bc4c-5e2dc930a1a7 CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660dbc1b-3266-42ef-9713-ce4e1c364cc0 CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976d38e6-e2c9-44a1-ba3c-d396d2cf2d6d CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75731cdf-8746-41aa-8711-3c379a70afcb CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0617a0a9-950c-4884-bcb9-e1674670882a CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7c0d7c-e0a8-4097-bd26-253ba9d789cd CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e81773e-86a8-4996-9752-fae82fb0844d CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7488a09d-638e-4130-8d6e-e8cb3214cc84 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1c1428f-a7c9-4047-b221-58bdb0f58ecd CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ecb5b66-7508-4812-bb49-a3ba397ccc69 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f9ccf37-1a63-4770-b356-d4d5845aea76 CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a02537-79c6-4249-8d5d-0845c3e127bd CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2a416de-88c7-47fd-8fcd-fc8468fddf83 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110b71f5-aa72-460d-bbd4-1af4b9b0ebb2 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79bd984a-f79e-4663-a561-f5985b03c5cf CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dceb5ec-459d-4bfe-b616-a267a42e2b1a CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc629ff1-5f9c-41e5-8ae2-850b2e2c7dde CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78735ee-3d73-40ec-a780-d80ac900607d CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8071ae4b-40c2-4a23-8a34-0052b9cec427 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0842ea-1416-4120-8f46-15aa8c5ebc61 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44ca4ba2-2cfe-49fc-85e7-e4073b30730d CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2350b53-cf4e-407b-8204-34be0d81067e CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34d29d95-cecd-44c4-8050-58a9de46929f CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f6ea2a-32f9-49d3-b9e0-b3203394c9b2 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4021e0e-4957-4021-bc16-da71b0bc3a20 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a23727e-4e5a-4d80-8a23-49213d333754 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3e18fe3-2868-40eb-840f-8b1be7584784 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147afba4-f6b1-4766-82ec-2e1b7018b7f2 CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b34db3a-a75b-4816-a94f-16c16c03a4b2 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22814218-7e61-405e-a82f-f998c3a36b9c CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen baa1f0fa-e8b2-48a1-ac6b-d6d4e2cfda19 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043ff4cc-eb40-44a3-b965-8d733030e625 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9759ef41-85ad-4adb-accd-3f147c06727c CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d2fd7b-daac-4d25-bf5a-9baef99a1820 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 854e8869-d0e4-452e-93a8-6150871166ea CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911c3240-5851-4369-a368-fbd32bd779bc CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aba16eb-580f-472d-a330-c77df85a168e CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc68f340-35c7-4ffe-9b40-14d1002d5886 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen caa937f2-bb68-4fcf-b421-2f5e57810c02 CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d7e1e0-fa58-4a1d-bfb5-fe5fef251b7d CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8028754b-db7b-4747-bf17-219eed571c50 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621d098a-b7ff-4368-92ec-bb2ce3b3bfb9 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 837f21ea-6959-48ab-b5ff-be340201afb2 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c157ef8-d9bf-4788-a8bb-aa50b26be23b CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7705536f-5375-4730-be12-aeb5d19907a8 CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd8733a-37a1-43bd-a496-7ab6d28e84ba CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0333b00c-57ea-4385-b5e2-c7f4013a36f5 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a6f135-9138-4ee2-a41d-4452d095c900 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9a6cad7-6585-459a-be20-c39372230200 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff2f2cb-92fb-4091-a419-2b2965cff670 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88b5d2c1-43d1-4d19-ae2f-a79e9b9026a2 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a239b89-72bc-49a9-9a2b-f05132737b3a CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfed9644-6731-4539-b4de-c92756d57f8d CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90713250-ee90-4190-aab6-ff5160b16cef CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a19f0a1-d3ae-410b-b2fe-37e8f482be97 CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b47367-3686-434f-9ebe-418df17fade9 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f48f6706-53fa-496f-aa47-a080e85c8370 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22918c53-2985-4726-9989-c70823b44599 CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fc7d200-cb3d-48fc-a015-0e0fb0849407 CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70274089-3731-4655-bbaa-46e06218a374 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ef21593-4f16-4b40-85ad-58f569266c36 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5bb1c25-e828-4691-83fe-9ee350be4f00 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5c5b4bc-62d5-48a2-a0c6-512e28c25483 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2edfe715-0ad5-4db5-950b-6543d0ea0b52 CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02502523-b30c-499c-90dc-b18aa91f9ed9 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0feea723-5a26-4151-bbe5-abf9fc3af4d2 CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4151ac9-c8d4-4cb5-8b6b-dea7a532dec9 CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57705f4d-20cd-4f92-a71f-92dd1420246b CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f5a50f9-6c81-4423-a3c2-092f78e9e85a CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c35ac56-b6a0-4cbf-a173-1fcfdf2cadaa CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4793d385-789a-4bee-b149-902b68aa6b0c CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e08ae98-c8d4-4ace-87dc-13da2485d29b CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfc101d7-2bac-4f68-b9a1-1a5440ede6da CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5904c85a-7a99-4cca-9b59-66443475401e CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f41fcb97-90b7-4bd8-9b90-9ccad3d1f903 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15441579-c1b1-483a-a8d1-769724db1675 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968a97ef-702c-421b-b121-229ff66f6253 CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcd879c-fc06-4f65-93e9-9c459567c05f CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb07c7bf-2f49-491c-9040-a0a3a785e513 CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ea43d7-b45a-48fa-94d4-8bdab52df00c CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d863f30b-c1e8-40dc-a4ec-26fe99e8c407 CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 365060cc-2784-4282-91c9-56acbbf05313 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08de878a-091c-447c-b1ae-bbb27cd6a283 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09bca46-0338-4029-aab2-b024831ba7c0 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4807d045-3c2b-44db-96e5-c423cc69ca98 CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfeef3e6-e4c4-42e4-b3c6-1da05855ca14 CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 387c056a-39fe-491f-9098-686d7fc52ba2 CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f549519-34b2-45c4-8dec-a3a45262f087 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 178d2fbc-7136-4938-89e4-2677cb7ab1dc CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46701dce-e540-4ff0-876c-2ada4ef5dc02 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78015a36-cdb0-4ff9-a0ba-342ecf63bd67 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7e2220-140a-4980-9dbd-7c853ab831e8 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83bccbcf-4e3f-4d11-a7c4-d8c3eec90951 CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883a2919-da68-4849-ac87-4374cac5d01d CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e04f811-ab03-4c4b-ac42-425cd2589461 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0286197d-e770-495d-bb57-838d62667ee5 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28ae1e95-3771-4dab-a511-1aae2b141409 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea15a12-b0d9-4c83-ba47-eaf20e1155c7 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ae736f3-dd14-4194-9da3-147e3220e39c CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6262e16-c679-4a45-b35c-e6191a44f1b5 CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 165a2900-73c4-4367-a7e8-95d0f99a63d4 CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30389136-f7d2-4618-814b-6438f8fa1eda CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 381448a6-ae55-4fc2-ba9b-3cc605a86e9a CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e9dca6f-c0f7-4607-8590-cc2db4b810df CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16475425-1b88-4f52-bd0b-e43ebd2dd017 CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd36b17-c71b-41f6-b6a9-2fc2b2994887 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9723b90c-6d3c-43e9-9048-cd8b259ac785 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b32f8e0-9553-4ced-9c05-282ca04ad5d8 CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2de837bc-d37e-414c-8278-05d1c2c34d07 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b503b6c-9ae8-4b2a-8e44-ec0b6c711a84 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04d4687a-a21b-4818-8b88-e2579cdd0bbc CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327d3641-0aeb-4d3b-8251-50f055a7a0fa CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4c3d8a1-8629-46df-b23b-793c2fbebe92 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1305c79-30ee-4efe-86ec-a94ad6565879 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42d8cb32-684b-4bac-a71b-06abcb2c4790 CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673ed77f-af15-421b-9f2a-6859991f8e25 CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d19fe7a0-e8bd-40b5-a1f5-9906d11fda8c CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c3bb0f-c521-4205-b2b9-71a5f5be1ebd CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72bc49a5-72bc-4a67-b73e-7803f22d6c11 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc24b8c4-6590-40b7-887c-d047501c5434 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 402c0f7c-342f-4331-80aa-7da98aac885f CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e68374-95cf-4017-b037-bcc3730dbb1d CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1c9649d-a108-4584-94ff-d813d0d75ac5 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ecb921-4925-43cf-a5af-17926a277fdf CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 789ee997-e5c2-4f05-9cc6-451bc93c2bd5 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e1cd0e-e618-4f91-a80c-165242627643 CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52438064-d56b-4c37-84cc-f07158c61129 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e7d408-eb4d-4063-8948-512fb76e252e CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34b81b96-42da-417d-bfaa-f4f6cc0819d3 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3923303c-41b3-4dbf-8974-40cc3d9574bb CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8841ab-75b2-4024-b720-41af8a673b39 CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a5966b-8d91-4eb0-93fe-32f4b860cb09 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0003e7c7-f84b-4ad7-b7fd-acffc955436f CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c07e37e2-d9ce-44cb-807d-ecdc12bf6155 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acc8d420-b64b-45b2-a427-d059b8d60c4e CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43fcfe4c-3d2c-44b0-888a-2ab3bac3ef8b CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78aea033-d4b4-473e-97e9-cce98692a405 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd9898d-c5ab-4e54-98ea-cda4f1e9bf7b CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b5b9d15-61d4-42ba-9d88-b19b57d691b8 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebf1399-6572-4535-9d63-41fd235405c2 CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a9112a1-0fcd-4902-b6e3-ee84346727df CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011e2198-6d22-4edd-9be4-2a7fcf68615f CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86dd1d4e-341b-4454-8f66-2b3f597f3a6c CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3305a396-f8f0-4a19-9e1a-0defa7270f0c CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17913c57-2733-44d0-973b-d12711d2eb7c CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2165536f-e189-4ceb-9b54-4e59f1e0873f CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a96bf8af-1b4b-4f64-96b4-3aa4c4d88c22 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f304107c-606f-473e-ad5b-0c338a6944a5 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e2fa34b-c474-440b-a2ce-ae9db73b4e5c CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5b11b4-2611-451f-9ebe-3cbcc087f938 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9dbe31ad-d366-4dc7-a8b4-1082a5575037 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcb23e6-c169-4a2f-8cfe-5c6f66cbb05d CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 635708de-db7c-4a3a-b539-5a227f81ae61 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83f63ba-1a3c-4a35-8ee3-bc89f28b860c CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 130a0291-02e1-4330-9ed1-cc057eaec8d7 CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb1cd36-006f-4fec-b867-54b24f41cc9b CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db01a327-7753-4288-b55b-5e9c2688169d CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95f072d-d3b3-4643-ac55-a2d9fdf42472 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b79bbb5-af39-49cb-9cd8-567353078900 CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89850986-15d8-4739-94f8-9fa8b1500005 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6457acab-5285-4220-999c-e55abc1a916f CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a91a357-cc3e-47dc-92d2-b5ea749bf248 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5bf3fda-8938-438d-b877-3a165125a19c CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba34daf-e275-4d29-b4c3-9c9ee1fe9b78 CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fb3707e-deed-43e4-99a6-8600800413b8 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4792022-2091-46b4-946a-0b9b50834325 CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d820f0c-e2cc-4fc8-ad15-f3813f566068 CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ac16d6-16e5-432e-9177-d09dc05bad1b CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb5390bf-121b-4d99-87bd-141f587eb852 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b249654-2481-4339-b1c7-e0061b78f98b CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc69ad4-3055-4ef8-b2ab-b1500eec8a2d CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5474a6-5768-4c5a-8746-0e0ef1f3294c CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44993858-a54f-4e02-88bc-8e3bd147b71b CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d2e0a24-2335-47b1-bfc1-d3678d6a9ed5 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2112b514-7927-43a7-b678-2da1e5d349b8 CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b03a98-6b1e-45da-b156-c3c52296086d CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f916cc1a-b0f8-4526-8bef-762bd68021c9 CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4812aabf-eb33-4d5d-8f63-920a49b1a913 CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb5b5a8b-adcd-41e4-bcb4-a4c43b631f36 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea66283-d46b-4adb-aac7-459b3146aec0 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 108005b5-c2bc-49ab-9243-e5187e113f3b CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1254f284-2eb0-49e1-aea3-4335ec41597f CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd9794c-32ce-465b-8df8-03381062fd90 CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e62551-3ccf-4266-854a-38af5f46b891 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbdb5397-69e4-49f0-af36-bc4f0e8b182c CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3873eed-9f84-4cbe-8c24-e345b71e2c32 CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 929f012a-97ea-4781-b47d-e224daeb207e CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1fb2a1-7c0d-4e1d-9969-e40bb3e1d2e7 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43144f0c-27c3-49d9-b3d3-26de53061aed CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0aa5e1c-4bd8-40e5-a806-7dd93defd69d CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a342ade1-0bbc-41e3-aebf-b5bae040bd88 CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4349c1-82b1-4db2-b7c3-4852e7804dac CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04e3557-2a1e-438c-8e4f-160a2d55e587 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715a24c0-ffa3-4670-a758-bbdfd8848a7f CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4949fa5b-349c-4f13-9ffd-0288126b126d CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9823cf9-1477-4a3d-b67e-67d07b06b15f CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63992d69-ec38-4939-a0a8-9c97082f625c CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0914b28d-038b-409b-acd9-21984608e1f7 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d01ebcb-ea79-48e8-b8b2-b5ca27928218 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50830a1-685f-44f0-abc2-db4469cebe4f CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df2cf41a-5a89-462c-9414-885cb5a3d7eb CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8119439-a3d0-4c02-b85d-f0bad3b0c30e CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4cebaa-5795-4663-9242-1f4c4c8d57eb CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbbed67-c359-4a00-aeeb-9e55d043bdfc CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7bc41a0-3649-4878-8525-74a3a341b709 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807259ac-7c6b-4750-b87e-e945febcc46b CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd6bd08f-a0a7-4d8c-b131-aeba7dbe065e CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1be8d6-1610-4fd7-8106-9486c71a4683 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b0bfa33-7300-41ea-8ba5-84e6b439c67f CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36137017-8592-46ca-8e07-53ec3b51fe30 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a8958ea-56c9-44e6-bd91-188135dd2335 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6907dac0-85c5-4a9b-ba29-aac90d59084f CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b953bf0-0ab3-40e7-aea9-c518e159e526 CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b030a9a4-5f1c-4d97-ac51-d07481ca3916 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a782f028-493d-4d3e-8356-9a6d1e8dfbc0 CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fdd100-38cf-47a4-a563-e46b2c9094bc CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e98f8b-c11d-4642-bb7a-7b3e970c03b7 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50279bdb-f7da-4032-82f2-2fdaca594ce4 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc6b15fd-1da8-44d4-b957-3fe3b3521cd5 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61687a72-e02b-4d04-933d-acb3721d4865 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0722d55d-c3af-4a0b-aae3-b5af413d6b39 CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb513811-0c83-47fb-b9df-bc15fa2d5a36 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b38a96f-355a-4e7c-bcb6-3b1e3409a0ce CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526bb4f1-3a71-493a-9032-e1aea36afad0 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44335152-007d-4c63-a365-68d692a0f7bb CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2674f92-8c87-4e77-88b1-e432de317ea5 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2f7ed96-020c-42b2-8de7-204e063dbb7a CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1cd738-6653-4d6d-80ce-a3eb8a250e26 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8640d1db-58ee-4eff-ac60-70bd2c561016 CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e1e2b1-21aa-46ab-bb6f-8a2ad0b0897a CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b83c67b-0e8f-4e2c-8cb5-a0ff6cbb5398 CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bea0de1-393a-4598-88e8-bc92ab7100ab CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d6c3e6d-363f-4269-a5c2-1f0fd6145561 CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d635fb01-1949-473f-b943-dd95ecb1c11d CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0fa20fb-1cb4-420b-b6b0-5e9973995acb CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54c24eb-54cc-4101-bc87-096a2355ffa7 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b0fef6a-b12d-4d7e-900b-2d230384b79d CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8979cb95-2b59-440d-8cc4-77a8f7fb61de CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c4eee35-9dd7-4638-955a-449162c95bc1 CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36557af-9860-4409-b641-074cccd1d996 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3edf7f88-006a-4223-9305-1dc62e3f3fc0 CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692d2e77-1427-4924-9845-af441faa94ab CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3adffeb-ccaa-4c6c-b6cb-3f38a73f52a7 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cbc838-a87b-4481-931a-2dce450acf7f CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd79ff9-695e-4325-b51b-9c80409af2f6 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5943e0-7594-45d6-b4c3-b69981c8f811 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e531a12-7097-4ad7-bfba-b0386a80f997 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428a0f9e-df3e-4b95-9806-1779144f4dab CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a2ab75d-00b3-43c8-9df0-1465e3dc605a CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5da742-caab-4949-bac0-72f3b83f97d6 CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0804cb44-c8dc-4b0b-936e-da43cb983f50 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7209daca-9860-402a-b024-fbc9a3f0a21d CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d991ca2-2802-4bd5-8898-b7aed1e98869 CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd7242c-ac98-4aef-bc50-a785665c244e CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bf6b28b-5282-4332-90bb-0f8b2cc361a8 CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c1e375-fcbf-4fcd-a10b-1dc1cf50d62d CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4b99212-1203-4ba1-a656-9dc60932aa61 CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca0d3ba-e847-4227-aa31-14e5b214e307 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f41b1972-1072-4133-918d-1490cf63706e CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff050da-8683-4ec6-bf68-144aa0acc6b1 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55b4aa48-3370-436d-af6f-14ee019779af CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053f0207-9fe2-4de2-b700-27db1a5ce493 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50601a41-45b8-4e5f-965d-65e39c8d831c CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea5e4a6-0aad-4b4e-86b2-31ee6071f9e8 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbc15eab-c3d7-490f-af77-a98d2c0e2207 CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e87dfb9-a80c-45e2-aedf-456d2d2f1823 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4b1d2c2-2d02-4322-b9aa-7f0c51618de2 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7c04a9-5974-4986-b4ac-987e24ba03aa CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17df33e7-1074-4560-829f-404a69c1e3c3 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbbf6a1-1c03-4e5b-827f-7d99d2849801 CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6841c5f1-d6ec-4e78-99a0-efc9c915fa79 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c0a29d1-6f68-4687-8f67-7ec523ad44ab CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0627444a-8868-44fd-8747-5563fb402592 CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4904282-2bfb-47c8-81ab-a3b71fb9ca7c CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2e38129-03b1-4578-baf3-dc49f76836d9 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b847a827-4cd5-413b-9026-84931cac6f4e CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a8a2e25-4803-4063-b6f0-e1d0fc33c94e CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1814fded-fac0-4870-85b5-10ef6c16b2c5 CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b74b4797-7b6f-4dfc-83e8-1e3e95599248 CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5421c33e-f743-4475-8478-e774484bb5a8 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a5ce744-0ee1-463a-83aa-a75fa5618e82 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6d7577-f06a-4ee5-98d2-6e70d8f58d52 CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7404bd30-d36b-4113-8cb8-1ac334c8cc9a CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2918fb27-ce6c-411b-9f70-1ce3f6367da9 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec53b4b4-b18e-416f-b335-28b7fe954885 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c4ba48-b3af-4168-ad50-4fc4b7441562 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e060a44e-a263-439e-b84d-b96a3be008f9 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ae9cd7-c0bd-4d0e-b619-ba9ee3483a27 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e98fb2f4-3c11-4f5d-9667-b37fed7082ad CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c79ae7-46fd-4d76-9c18-3f184e0ea811 CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 310c0105-5b45-45e1-b95b-d82cd8d44afc CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82528fc-e6ba-44dd-b4e0-5b3d2cfbc8be CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fe5248f-370c-4881-9911-211728d5bdfa CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44259e3c-3558-49e6-93df-7137eb8463eb CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6ecd687-827a-4984-be33-ed9307a645cb CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe4e694-839c-4a69-a6db-b9838434ed2d CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ce1ab5e-afaa-4e14-a970-24ed3c13795d CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5141fdf-f32a-4846-9cae-55a088b8cbd3 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d2f1b33-1782-4c86-86fd-d3b31ccdbd35 CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e22840-d127-48a4-9d7f-049639ef2ff7 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfd4ddf8-c893-44dc-9e01-5f84b19d04e3 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478c3b08-f1da-408b-b44a-b30b9c338210 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2c43103-e3d7-4a25-8573-1431797fb307 CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b6bbd3-5e5f-4737-be24-0aa7c27bd4df CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e63284ca-bd5d-4ebe-9c89-17e8950de8f4 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 406270e6-64fb-4bd1-aecf-ee7b157a1aac CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aeaa484f-f3b7-4be1-a371-1a98cbd76f35 CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8e0bbc-6133-4a38-a523-5e53c28b8250 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eade0903-e2e1-4f98-8fa1-368167064cac CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd705e64-be7d-4c1b-a822-fed5a01782fc CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f84e94a-16a6-4330-aa44-c046b43ceed9 CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6a82d4-d855-435a-89bc-a4e9b8a22b63 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7deb875-c81d-47a0-9fc9-41f0bef47d2c CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd4071e-79de-4428-b7a1-468d8274cbfd CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8daca50-138f-4246-9906-a46ea1c11799 CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9398104a-e268-4a2c-a00f-24b9b371fe5c CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1897c439-fe8a-4a0a-bd5d-7721186169cb CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b7f5f15-8190-4d74-8468-b07a004112d7 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6566952-ef37-4fb3-8df6-af5c885366da CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f46432a-c720-4e4e-836a-6c207f2b9fec CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 686e3a4a-5332-45ab-bfc4-b5beb6776058 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e056ade7-f26a-4890-8d23-28369cc08f98 CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69c03091-1bcc-4b31-a964-5f359b333217 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91002f28-4ad5-403d-88ad-ec2355d7a7bb CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c29d7eaf-d17b-4e7a-8570-1e910f1ac23d CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d081ff6-1820-43a1-b44f-f1c601bb1042 CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09d2d079-b13e-4fb6-9534-b58a230903c7 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b84cc4b-744d-485d-a9fe-9f0747af3478 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6baead04-c02e-477b-be22-24b5ef3e7455 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0946905-e368-4be6-b87a-6088fdb67b9d CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9585b8e-d1fb-447d-9005-d6f56d14a056 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2148b363-7710-4159-8294-1237fc3cbeda CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30b1eb30-85b8-41a6-88ca-0b1f2fb6c8e5 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97524154-79fe-46e5-a62f-5d6ac61b34d2 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd3c649d-03c6-4b12-844d-9dbfcbea0bab CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6572f487-86c4-402f-a27d-2da0ff8f9bbe CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d0e30fd-2d3d-4473-bf85-8c0d76e6db10 CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c546080-5d55-45ab-bb09-38a9331c2914 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d91ab62-a422-49c9-b71e-e8d1b6148c7e CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62132021-3ee5-4e18-bd3d-4337130aeab7 CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7fcd6af-7e84-4ba0-8de2-3dd7aaf5488b CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8bca70-cd15-444d-9aa0-159496158f09 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd712f5-8f8d-432a-ab8c-1ce59d82f3e4 CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77025585-8bb8-4430-93eb-580086341364 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7905b50b-f3f0-4ab4-81a3-835395dc448d CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f9a780-0671-4ba6-9eed-3e3595688345 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0a628f3-72dd-49b5-bbfa-a5de391d38c9 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e704d7-30e1-4d90-bcc8-219eadf97662 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b813091f-0e1a-4818-bd21-46266e4c63f6 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133434c0-1f50-45a3-a414-1f8f135be9d3 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8ad7c9c-0878-4ec0-aedf-b59279701815 CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe3dfec-939c-47c0-899c-7af4e54a75a2 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d20e453b-9e3d-4989-b02e-140c0b08e4c2 CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d17f09f-043c-4cd3-bc21-bed627ee461e CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1636395-df0c-44c3-b33e-a9a1880e7773 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa94998-8b40-4bd8-b9a5-5e0f10223ed6 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d44e7bb6-31a2-4cb8-8603-ac2ff64a43a9 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68aab55f-6b1f-4586-9d82-26555e0503e2 CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0030f207-5862-4867-b58c-1071ee6c35b8 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2ac1cd-5035-4a10-9df0-fcb9245cefc5 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e0a394c-c851-4261-8fd9-8ecb747a37e8 CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464c1a38-df11-4e82-bd05-8c92c36c6438 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen effe7af4-a65a-48d8-90cb-032952d6ddc1 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2a8478-1904-4571-b34a-10bb4d01dd8e CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0402beb9-11b3-4dc1-a5cb-eb0e2d87a187 CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86c5cc2-6847-4b9e-afb0-e97f2eb588dc CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b71a35e-0c89-4b3c-ad7f-0099e6c274fe CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e51f441-3fff-474a-9dfb-37c18dadbcdc CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d1fca57-cebb-47f6-82be-0a48b153e73c CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32554380-1d75-4280-bb06-8b8535752d06 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94533ace-a0a4-4fc5-be9b-58309b35aecd CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4eb1e7-de39-470d-a3d3-38a7cde0cf5a CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d858b54-91c7-4e44-9ec3-bfd5a1f196a2 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c0db99-f3c3-4adf-8471-739fcff6369e CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3447470c-ee5a-467e-b5a7-028a57f44d50 CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be28b64a-c287-44fb-8187-c2164030db56 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d448f7b-f7e1-442a-a237-99f0376f2b1d CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2fc9942-eeac-45be-b089-0b3ba527989e CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe10781-3721-4dd7-8c29-94ea0450bbc0 CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58070003-61b3-4e72-a180-44ab10303ea4 CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c80836cd-bb21-4026-9fb4-1d4aeb06ea88 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f3607c-9b03-40a2-9f28-3b025dc1ed3f CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7bdc00a-022f-4609-be54-c1fba46b2978 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247e51ae-322a-4702-bb98-30fcc4647786 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62988dcc-ef7c-4776-bd9b-bcaf9c9b4f23 CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50507b47-6c93-48ce-b055-346845495558 CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31f0bbb9-ca92-453b-b14f-54a858f38043 CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979a0f9e-6db5-41ad-9c79-1fd206913cba CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dea7fc3-9fd7-401e-80e4-1301c5e84dae CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a65533-474e-461e-bbb2-e248a93388b2 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64efbaeb-0ba9-411a-8746-42bd65cedc96 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feea23ea-26e5-40d6-9ca0-26de495b3a95 CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23186929-510f-4b2f-95b5-a7cfa6c52892 CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d829fda-3fa5-42c3-b09d-ac181e45a2f7 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f418b0e8-4ab9-4aa0-a614-aab0204d3ba8 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ffbe75-4658-4eb4-8300-0dd92fc0aee9 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23382c88-c0b2-4600-976e-4dbe7e38626e CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455c0256-fa21-4b43-a4b9-a5f2abb329b8 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2249d707-ac33-4cf4-a5e5-dc7a86c9ae5c CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c742b6-2628-4fed-9fbe-53dc6989e6ab CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f050085e-0fbc-4d71-b481-f63a42ad5a80 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc93050d-b0d9-4aa9-9676-3f02c0c014c9 CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb1b317f-9951-44ec-9c9d-14ae99b7db98 CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c1a89c-ee53-4471-b0f0-029c572b7a53 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29ca6fc6-d0ec-4327-ba67-4c7709938b05 CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d8d4273-39cd-4e43-96fe-ff8961f6d2e8 CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14e9747a-9555-4940-abd5-9e1d5c4e032f CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80532e8-f93b-4b62-8eb2-4d8e9758c2de CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 110de3d6-1428-42a8-9e1a-897df6ac7f38 CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b13200d-0026-4724-815a-73c445694226 CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f000eb0c-ed87-43d5-9521-9b7153fdd153 CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c249b47f-097d-455f-8324-fb0a07acb496 CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7c135d9-e7d5-4d30-988a-143a420e7fb1 CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34893384-48ef-4840-9862-96ae4f480013 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 796a5bc0-56be-4360-a52b-875735f347fa CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9dd63fe-5341-4a3a-8042-0b053108d187 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c92e80e-4b4a-4f69-ad31-ef1c24a1c3d7 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431ab11a-384e-450c-8c10-900391b21353 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e0929c8-bb99-4bf3-824c-10446cddfc21 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d7d880-3dec-4a1d-b213-d6ff75093429 CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9b8556-69d7-494a-bd9a-ae5e74dcbd2f CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73512b3b-6ed0-4279-bcb6-c5ab5b2342b6 CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dca03609-695e-4a9b-b002-337bc2758d18 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699b20b2-ed8d-4f51-8fe7-2c3246e73a81 CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e930c3e9-a789-489d-9fcf-b20c8a737f55 CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e34480-f36a-4a9b-aaf8-dacc800bc828 CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9400635-1a6d-4285-b1c5-8ee793df89bb CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5d626f-27d0-4a1c-8e3e-189b066b07f8 CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aeadbec3-2517-4c4e-9ba1-07ecb0a31abb CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581d2695-77ec-467b-949a-b6b3236317af CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cecf077-9ee8-43ba-8e1e-ca53da17cd58 CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e37f326-097c-41f8-986c-da31d4c4d7f7 CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02aa6a26-f1b4-4fa3-bd71-a0b6b9acf0d4 CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390ba5f9-e317-45e5-a6d3-14a7730ef6a8 CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36122230-1203-44a3-8fa7-615d675e8568 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e77c44d-72a0-4831-967a-a8d784922d4f CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3441be23-0e6e-4b29-852d-95f46dca7c18 CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000795ec-effa-41bc-ac2d-dfd16c8b7029 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 925777e5-998f-47c6-9d41-5a8aafa65b65 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9a2753-4ce6-48f2-b950-9ba4204906a6 CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83768324-ea06-4a2e-91ec-f4c0ae3f5bbd CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5f4882-5a51-4d2e-8c44-20b24c57fd41 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc93e987-1a79-4dc5-8e49-2843c88b2654 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b39fa97-5a8b-4feb-8647-a156a7e0720a CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23e77fb9-045a-4f1f-b072-25efc84fc47a CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46962492-4cf8-42eb-ab07-4535a7dadc88 CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb992e95-bc93-436e-afc1-a901b715608c CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd330bcf-3c11-44c1-9c37-d83fc1b327da CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9177c898-ad63-44fa-b971-8f2b681c5be5 CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0abd484c-a310-49f4-91c2-63da5d0b8cdf CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd3d60cc-cad7-40da-9289-269ad099741c CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c37a65b-8a0d-4d75-87fc-4461d716fd25 CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64890925-2d43-40f2-9b35-ed8d8d57c433 CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc05480-acd3-44e9-b37f-ef28c779686d CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce07f5a7-f979-4161-8bd7-1598ebda8534 CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef7969eb-ef2d-4ffd-8ef0-d97521ab51ff CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 908176f5-2d30-42ca-b681-bdd0d757a029 CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0658d1b-ecc8-4d88-b54b-7e4b9b73c2b5 CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50cf01e1-561b-4134-9a0e-cc4d8828dba9 CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a57d72c-6cb0-4a83-bbb1-0147508a2d3d CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 423c35c5-8e22-4e32-bb2c-22f84e254c92 CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f9788d-bd8b-4257-ae7b-522938d3c866 CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d23ae58f-cfa5-4098-8adb-fe975232583f CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd3a484-f277-451c-bc74-e10333664110 CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19275413-a073-405f-bbde-948afef8f774 CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a3773e-6a39-42fa-9753-55e931f53884 CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35e6d158-f830-4fdb-b73c-18342d712acb CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53afe1a0-f2fc-4212-b011-b93f99e78d51 CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc3ac936-ddee-439e-a518-01b553c61116 CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7f76b3-2933-454b-86f8-27da698a1e60 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 154e1de8-d887-4c6a-9515-8ce3a0260bfe CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090830b3-db90-46a0-aac4-97f738b692f6 CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faaa0a17-422d-4e76-91e8-3ae85b4c31ca CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97bc49e9-1ad4-41da-a467-436c607a0ac0 CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e394a633-221f-413e-b6e6-433d867620c1 CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aec0cfc-c161-440b-8093-267d864b44da CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88a7bda1-49d4-4ccd-9ce5-1f2d92fdc277 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc5d07a-71b3-4cf1-a8e3-32923e48836b CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 643e6565-fe5b-4b4d-9770-5d0a394e953f CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2d5c78-cf93-48e3-b08e-079a7f5989ef CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a254fc59-3f0a-4030-9bde-d325fd14c74e CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e39ac86d-e761-45f7-bd0a-c9188593473c CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfad0f54-099a-4c8d-b6b3-fbe534bac3f4 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a3e660-ee12-42ea-a3fa-e4b4171d3177 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ad6cdbf-906b-4db5-b121-15c7827dccf4 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06eca421-0f7a-41b9-9581-bee8f406ae1e CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 394b245c-a4c4-452c-b610-48e61e014abd CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555fcce3-ce1a-4a9a-b25c-a15a7eafa539 CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8a7847b-bacb-41c2-82bc-02c5ea87891e CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df6f844-b782-4ac3-b9af-3c2818a87751 CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1f199d3-4e8d-43dd-ae86-40e95323f46b CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb12508-003e-4c83-a0c2-ec9c43c06229 CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31245732-5457-4b0f-94ff-c68eb20ec43b CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef83b928-6c98-45e2-9744-103a7c19f3de CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbcad09b-1e9a-41f6-aa03-95a7ce9052a2 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005d051a-fcdd-4cf2-aa4e-c41826a29719 CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4c2f9e3-87cc-45b7-b2d1-df7df8bd6d6b CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473b6dc2-28c9-46cd-82ef-00eb0373c217 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73e71d03-2c89-4da9-9727-3ff1a6f76e72 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7fd677-9f17-4927-bc2f-c4752d8c3063 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4235c20f-2d7e-403c-b2ee-0c58a77786b8 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb650ff8-c9a8-4458-bbb4-e4be8985e682 CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f3bd4d7-f36a-4f07-a065-ac3d0c54897f CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fd8f40-5407-4925-84d0-1c8e2fea62f2 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef7eac31-0464-40f4-8aab-fc97ccffe31c CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca476e10-b507-4261-b1c1-44a559392605 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c8c7368-04ce-4e01-b955-1a00d8ac231b CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44aaaf96-4c20-4f70-88f2-26d9ecd1ec5f CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 568168b2-da22-4c5c-9766-27d9296178e4 CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea774a0-be31-478e-96e6-2803fbfae423 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcbdb0f3-3f3c-480f-bee2-7c4c6bfa4cf9 CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9805298-073c-4dcc-a306-f6f14bcf7a78 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0cb26df-673f-4b3b-ad7d-bc5718edabd4 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4b57f5-4dac-4c06-b994-a2047b788c1f CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2b6c39a-99b4-44b5-bad3-7240934a61df CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9c6750-5005-4bca-bee3-c1d8c804423b CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a9c2fea-0220-4ac8-9eea-3f10303d93a1 CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e76ec09-bfe2-4c7d-95e9-ebc075c422b0 CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7cda5e5-e4e5-499d-a371-d09561a31ef1 CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b32ba3-3804-4477-945e-c939847e54bc CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee1731c2-728e-45b6-94a2-b75055fec26c CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4182106e-ed27-4ea8-b4e7-5a201cac732e CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88dcbe9e-2788-4e78-b77c-a2b7ad061be6 CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49410fb-9942-43d7-ad04-9c7437f2c461 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c4e7ca0-d9d6-4d26-8b56-36f4ec780300 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ca49c6-0c3c-4cc5-8df8-1c751a8f7460 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e31c982e-7f61-444d-9ba8-36f787e9bf6b CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cfb3ce-f301-4780-bad0-393650482f61 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0833c9ce-9c76-420a-b1a1-e6cbf0c07f1d CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da06aef2-b5ae-4145-8249-71ef3f1d1e13 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bb8799d-9008-4d08-b0a7-19d9f20fe8cc CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ec75cf-1d4c-497b-803a-af8b87fb5082 CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb13f5a5-e741-412d-8ca9-d11cd0906650 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a70323-9d72-4338-81d8-05e7106eaa87 CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a9268e-6b86-4181-a5f4-f2e54e4bdf2e CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ff410b-c66d-4840-aa16-04675ce33d99 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 718c2a48-1f20-4b2b-89dd-c0d72ad7d1ef CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b2b7a4-65d0-4d92-bf10-28d541423996 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35c48c95-ec77-4920-b781-c2c56d492bff CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e34b66c-76c1-4b5b-8676-1c0edec7c323 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0239e9f8-78fb-4a9e-8545-e384a8a91e4d CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09871240-e819-4142-ac40-65ebfd0b5098 CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c891a65-7d53-4dd9-8c4d-dfb934997986 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd7923a-24ba-49df-99e2-f76e2cdbe7c7 CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 285c2799-6332-496d-9199-0c6d5019bb4f CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9b4090-dde0-4d35-b5fd-9527c1d44ade CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67091abe-c7d7-4400-8716-327680f906ba CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b266da-1dcf-4ab4-8667-cabb328ff77e CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73649b64-e08f-4d6d-9b2a-52b75b001fe6 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d074f481-982e-4b3d-b4c5-6832e597abae CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3aa730fc-9a47-48fa-98b3-5791176834d6 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a42ec2-b853-4e16-bf57-f1165b3dbb58 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8373e801-7d83-4642-b699-ba9d530a1d97 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2dd814-9e67-4202-af40-77af64ae3861 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b048a75-434c-4621-8bf5-673601f354d6 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d82d74-17b6-494d-bb57-2aac4baf2823 CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 490d7b9e-37e6-4a96-ba82-e28b3be6dd95 CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ddbc29-81c3-4bc2-ad09-d2595c1a0f5c CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd3e9ce7-9529-42b7-a697-30403f51a409 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186cb69e-2a22-4dad-97e7-23278f809547 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cdc91c4-6e80-4739-92da-6994401f60a9 CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db552637-dba0-4247-b40f-ae24aa3e1897 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f07ffed-1eb6-4539-9fc8-004a600fd39d CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918c45e2-3a05-41b9-8cb9-595133118822 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ddf6b7e-6b03-4a3c-836c-d36acccd354d CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8eab623-32d9-40bc-9582-3304a4f1a0aa CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f90f18ce-8fd8-40a2-85c6-f2e947dad094 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2593cc86-fb07-4ba8-81be-e8a37e1d1ae3 CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b887d79f-2db5-49b8-a47c-b3334afe6db1 CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b470d2-352f-482b-a7f4-bd28b592bd53 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d3f67ff-df3b-40cd-9f9a-e62d54f750f3 CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ace9c8-a2e0-4176-abd1-5c2153faa089 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 764deb52-d30b-4e9f-b5ac-86708d76b0da CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6332ae51-a485-4afc-a422-7a54a238fc69 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd90175-7f78-4e35-b075-f86bc4a98c95 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a52e67-4585-47ac-9679-3322f9cd5e0b CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6fbdbee-4d46-4c52-b4f7-a6f6c0098782 CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d55fc2-8c1d-47c4-be16-6a55239a97a4 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e0c5047-3cc6-49b7-992b-270b20679933 CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a10fb3-e71a-466a-9689-b02b4340eead CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 456ce1b1-74f2-4665-85cb-7bb3bf50eb14 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769d6c83-bbba-4b47-8ec9-d62bb21cea25 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41d2511f-8513-42d1-abfe-2f6abe2ad272 CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25cdb9b9-8b23-4b50-903a-355d28e29a9e CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fc9e2eb-ead0-4920-a809-23054f676468 CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66a3c60-e149-417c-8b5a-ca6ac02bef57 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590d30c6-4cc6-4561-9b47-d5b529738846 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d979d495-b536-442d-8fcc-197c82489879 CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a93649c-49c2-42b5-95cc-1b1bfbf5bce1 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f331f3-2922-422d-b12d-b3d46ec64674 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9d7560b-1190-4282-bb4d-24cb54acb261 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245e03af-466c-4a1b-b832-922fbb48d7ce CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97bb782e-9c57-4b93-85c7-b067c5ae5119 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60cb2d55-9788-4bce-a784-1be12aab9b3f CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c12bbca-473a-40c5-abf9-5ed180d0d24a CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e08badf-2f12-49f9-abb1-ac2e23d1ea8f CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b549b209-c69a-4f41-bd83-6857062bc718 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad37cbd-2752-4ef1-b847-195a557f7e7c CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fffc0e3d-05ce-4a6a-86d3-9bf238d0488f CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0edf60d1-397b-4c6c-867f-33b485a32d13 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac841ee-2e2d-4867-9eee-b9dd83f8be5c CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3147161-d2c7-4592-9ebd-f38937660635 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cf3a083-2a1f-4a5e-94ba-b64cb88fb60b CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40b9f54-4978-4b6d-a08e-1c2d3c6bbf70 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 822e74d3-51a1-4659-a81e-d4be80d9295f CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbaaf440-039c-4892-b4b6-9555683ed341 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb7020e1-f418-48c7-a333-60575e414ee6 CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d4279c-c5c8-4fb6-92ce-60137eab66a0 CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e7f085f-2fb9-4a3e-8453-072ffdb58550 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb17f9de-bacf-455f-9eb6-763191c076a4 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d2ce8b8-c29e-477a-9b87-c91a8e9ae11e CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c0edbc-88c3-433c-9215-63dbad612c3d CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77083c11-ce36-48a6-9f8a-20b838b59986 CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7698a644-2ae0-491d-92b4-fd2d1b3c3f98 CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bb32775-7f23-463a-9df3-91a2d407150f CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e4ffee-f2f9-4cd2-8471-0e7c5f180469 CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4c7727a-5aeb-4a0f-b8d8-d10d07d8c3d5 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bb203b-720f-4b07-878c-38728cdf7ae8 CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91a841bc-5a52-497f-a914-7db228f8d0e1 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7251c738-b779-4dfd-b096-ce4f3697a0ec CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5bb6d4b-ecae-4232-8009-042c9e6d9a75 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dabc06a-ef6d-402c-8a33-155bb098e8e3 CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7507c994-ab53-4a42-8c75-b6577c1a1d75 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc6f970-cbfd-4554-a278-c668a784e60a CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9431a335-1ffc-420d-8733-fc401a6dae2e CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f3e12b-8638-4382-9631-0139445a66d7 CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed2b2867-65ca-4eb1-833c-e60a5245d08b CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8ceb62-7d87-49e1-a8be-285fd476cb72 CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91df322a-56e3-4b0a-81ba-4c53e8ea1f46 CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bf39ca-f9d7-4b3c-baff-3d54d9e5e6d2 CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8363ecdf-51cd-4866-ad48-bdc88e73c2f6 CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de0342f-4fcd-4815-98b5-4cf1504a043a CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d2380b4-ed51-46ac-b99e-e57ca2b52f4a CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fcb81d-8fca-49e2-af5c-7390089fc287 CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e72de8f-6289-472b-8ff8-bf2952a463f8 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70bef19-f0c3-4af4-b9db-c5eaa63e071f CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a8e4f27-44ea-47bc-91d5-7c7db1df7914 CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a39925-500b-44a7-ae0b-b59038348e8e CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3add2740-ee89-47da-b618-91b337a3a5ab CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69cd96a-fe00-4bc2-8a86-9e367f02e55e CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8eaf14dc-5c98-4c31-8090-759a0b552607 CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa861ab1-d4b9-4490-b660-14c05cfb9f79 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a0af393-784b-4e05-9ee0-d46e52faaf51 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1339f359-f0f6-4646-a194-6a91bddbfbfe CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cbc2263-dbf2-4880-b406-31a81c789d25 CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7482625e-34e4-4184-a3be-0166cb0431c8 CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d471588-1bc4-4da0-9e49-ae150aeaf30d CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de05ff17-c2c3-4ad4-a716-7c4a71bdd6b6 CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 962dfc3f-de0d-42e7-94b2-ba5e081b1f9f CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34277747-1a71-4f05-91f5-40d1cd152c16 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 433ced26-9859-44a1-9aca-d3edf9ba2ca2 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb78427-657c-4b93-8bb6-f9b23b0f001a CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42b838ed-1519-4174-b971-ff78e6de2ab6 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752d55e6-f811-4191-bc5f-85a084c2a71a CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcdadb80-f8d5-40ca-a6da-3983409eacf8 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da71ce5-7c8a-4f9c-9f72-0f91a4162b25 CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a95467c-1013-4823-88df-8080caaaf938 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769561b2-1d6a-4045-8e7f-fd24199e75f4 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b4a3938-ca51-4c40-9b68-d1fba05937dd CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0cfad0-dbf3-4d94-9a3c-73ff3046ff61 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00c5b460-eef7-4be1-a54f-f8cd991efd41 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4dea9d5-d481-4fe6-88e2-8dcd2f4a96f1 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61393b48-f17d-41c8-8ff2-3e339979d81d CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43456f29-0515-4dde-9b66-b7d8ea592edd CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09784609-f00e-4cc0-a6f8-670f4c141b32 CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01fdecbb-9f73-467a-b69c-582c4b42b9ca CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b3365fb-9f1f-4ecf-82a0-430cd02790f0 CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1c22d1-6c95-4a05-9a23-16e87d95329a CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0e43a62-42e5-4bab-9aab-65bbd73d0e88 CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca57369-ab73-43a4-b031-83cc21d8b2a5 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b01d3729-5c0d-43fa-ac06-c93852c097a8 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aafa37d-62df-4506-97c6-4e78cdb91f6a CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d8b2b86-c9c3-4ed2-bbe4-8884a088036b CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b7719a-498f-40c3-90e1-c438e51dd108 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8acc724-ba22-44b9-a95e-fa9d11e0da42 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6e3add-a600-47fe-bd7e-e67d6416eb45 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b91fda9-fe31-4395-b7ee-acea3c183577 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27389bc7-6f97-413c-a3d1-b4df2420a660 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b1c196-df31-47b1-b63d-16566e63bcae CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5da2a8d-7e7c-44c2-9410-f0131509920e CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc1a1943-5c44-4c67-ae86-795c66e498df CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7a1abe-ec71-4fcb-b5b6-f2eeea213d2b CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ad904d-0eb8-4d64-9e81-d3c44152e586 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9384ff-ad06-4947-ad95-3e73777a5088 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f878d07-4719-4cf1-acfa-d69dc4bf871a CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737762b3-5a19-4723-a7e4-7fb720e4fefa CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d537a82c-d169-4a3d-b4b2-dbd6f2824467 CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9196ce-7991-46c6-8df3-c2faccdad516 CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b7e8700-4a40-47d7-9b56-20ea234c7cc9 CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690636f1-39d3-41a9-a855-362a4ccbad62 CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20457046-9f85-4c9f-8d8a-1070834add10 CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828c045e-1a1b-440f-a521-dd77692d553c CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 466ef016-49c8-42a5-a325-b1cb0239cd09 CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6483b944-48ca-4b52-b00a-b3074d2bee43 CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a187e5e-6df0-439e-b194-96432c60d798 CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f502aa-00a4-4ab3-a8c5-7c65485b5810 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e00960ee-20b8-4eb8-8b44-24b66276af0e CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315cc38b-8020-4dd1-b85b-44e2925be9f5 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8058695-c6ef-46f8-a1e3-8e651f2a121d CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28366f29-1702-4af2-96b9-c459d1fc82ef CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97fe1103-b185-40f6-9df8-7981891e6944 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb4ff81-00eb-45d0-a3c5-054251217825 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80d7b3aa-1a00-4dc7-95d0-f08cb16198ae CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c136686-f861-4d63-a208-96db4fef47a9 CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f06dd99e-b527-4f05-b344-7cc35e88b4f8 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3191b68-5aeb-467e-831d-5dc6d23053c3 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f22a31db-6145-4537-a746-e416809bee34 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddd6dc7-ce2e-4708-9cb5-f42ee5958f65 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 531fadff-005b-4c35-938e-aaf7002f0248 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a8074c-7eb9-45f9-9994-fd8ac04a9aaf CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 266e7df0-a0db-42f9-9beb-230ebc174a01 CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6942d8e-737d-428f-ba0f-6d5d570c0b83 CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d4101be-c62a-43cd-b21a-86ff9a8dd0ab CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cfc46a-1ab7-43c9-b6bb-02c9a7a9465d CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c900760e-b66c-4e17-95ed-c6cb0d0986c8 CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64fe2c49-bdc1-45a9-a189-24b536db680e CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b626d4-27a9-47fd-b069-45e9af920987 CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ee47c4-6e6c-4a41-bdd0-d52fccc1ab21 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6277ea2-5480-4969-95c7-79b0131b35cf CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b020fdd-82cb-484a-bef5-17d58cc71c03 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 330f912d-86ca-45aa-939e-51fc1386dda4 CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b47c9a-38d1-4183-868a-4dc29fd516a1 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70fe80d3-d2c5-4312-a06d-a88d58081979 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57362ed6-ac15-4a25-8bb5-c10b011df1cf CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e62862f-c255-41cd-bb0b-b5bfc735e04a CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863a323f-c07b-4150-a6f6-9c87012c3dc8 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c4cf9ce-6289-4545-ac55-fc3ce9091d59 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e35e082-ab73-460d-8081-e3fbfe0bf8d0 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d8eb22-69c2-4b70-8c2e-399e566acc98 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d6606b-e3dc-46cc-89c3-7d16c98fd71f CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cf4ac55-0752-4237-8659-df84f44fe7b4 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c268ce-d3c4-4070-8b4d-f551459d6c73 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 624c8514-664d-4710-974e-9b2ce59de917 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cbfdf2-e8e3-4a84-9400-58bd2ce5c9e1 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51e9ce05-e857-4a80-9ed8-0914ac0f5809 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ae6c18-a96f-43e5-87e9-53643f907830 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52907d71-3d22-449b-8542-e461845e24f3 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fe23bd-b139-4fe8-9c14-28b4ae8a4092 CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a7ec42e-111a-4fc1-aaeb-b7dc040a9477 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6086d5aa-0984-4b41-a792-5b5784026506 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd660b1c-776f-455c-87f6-b07815059a96 CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa25d3ac-c905-4881-b9bc-35a0b6c7e993 CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15fca9e3-3aca-4f25-9df1-441f731792f2 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e66456e-271a-4829-8f1b-19c518a7bff5 CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6391faf6-ca56-4b0d-aebd-149108435cfb CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec633f7-12ef-41a7-b44b-fec5af4a9886 CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46a905d7-5a60-4f64-8208-153515580d41 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f0da2b-e8fe-4188-8511-5aec0d61c1c8 CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b45225e-774d-42f2-9516-14595fea7389 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195578ef-617e-43ee-a4e4-a1d9ecbf6a91 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ebc14fb-82c9-420b-bc80-66a890958c94 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78773770-0eb9-4e70-bc0e-e27a8f9ea782 CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e0e8f1d-d492-48e5-9ff1-d1711e0f8eab CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d5d608-f14e-46d9-9932-9514ca3ed1ea CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b63f5e9f-dae5-421f-8916-4b972b3e36f2 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687e918b-4429-4fc9-a12f-e40ec51f58cf CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6d675e3-a3b4-4b95-ad16-bd2c213a4198 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0883a1d1-8a57-4311-af43-c84ee285fe02 CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2d0eec9-f172-4c98-ad07-f4a98a43df16 CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e540e5ab-538e-46b7-a572-97ac2621c504 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52ad227d-e7d2-4808-aee3-5fb8556b571f CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a71a25-ee74-4843-a1db-fb2a9e8e7f39 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d044ab95-7bc7-425a-8dd7-58a90e3c8320 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49dda14d-6aca-4819-81ec-b6177a70cb52 CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eef19787-58d8-4252-827f-bcd41b19085c CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f0ef67-7f93-4201-aa07-d74c41c2bfa4 CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f887538a-54af-4033-9488-45aab30edc38 CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a39b22d-5e4a-4ec2-9e23-955c47104f04 CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54213c9e-4045-4fce-867a-6c267fa48ec6 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372b2ea8-0eea-4d01-8c87-8a14c18ec5a1 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fab9ba34-060a-474a-ad64-1e6e83de37b4 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd8a689-3a82-4346-b134-259c8bea6261 CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f75c9f7f-f643-4c4d-bc4a-7332b330270e CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ce3a2b-d167-4c5c-b720-b4b5a966fd27 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f04082da-45bc-4616-ad9c-128f6200b365 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da4b059-bacd-4fce-95f4-abb9724abcfe CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b61a9a95-989d-4413-8482-72540b8bfcf7 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252b20b8-1c00-4849-a850-3b72f28b4f0e CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 231b0074-99e5-42c6-924d-91b659bec35e CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f278d7fa-8e5d-4063-aacf-9232836f6333 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 372e4eb2-2791-4756-81ed-053a24dbcc4c CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722cad05-764e-4afa-bda4-391ed757ece0 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c0a0644-4543-445f-b272-494c5582c0be CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5d84f0-14d8-486f-a598-05dc9dc5b750 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1cc3b74-3abe-45f4-9401-240e50b575e0 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72369669-886f-4566-aeb6-3588bfa0e5c1 CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c7c95a-e419-4547-b944-d35b5df3903f CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783a300e-9a58-419b-b79c-4b1280dd5c32 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2eadaba4-e563-4d6a-987d-520f657ccab8 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef223b98-11ab-4db0-9ca0-ac979ff00b0c CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84b2ee26-36b9-49c8-aeca-0d15d47b0414 CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acaddb1-f4a4-49db-8fbb-4da8d686c344 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e44442b7-f892-4853-b087-2ff941b1e5cf CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a98010-aac5-4a74-941b-23bc47e04c4d CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 601873dc-3864-493f-9531-6e4680521bce CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633e037c-05bf-4b6e-a9f1-0f06f10c6c76 CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50afac51-02f5-440b-b909-5df1bb8ecd63 CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d67c96b-5747-447a-b5a3-0c2e00d8580d CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4764bfdf-2669-4cee-8515-f71ac94ae39c CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ddee5f-ed20-47ca-bfae-3b6555b5e0b2 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e21d505-d16b-4639-bcc5-dc06e39f769e CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55116a9f-613d-4414-a491-9fd4783cc007 CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44b8dbc7-23df-404a-b183-3ab0a6e66e05 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8ea95a-6da8-42a5-91df-603254a6f9f9 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b1370da-02ec-4433-afbe-82588662eb66 CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6a05c7-9eed-470d-b469-66da55f62da0 CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc000074-a4cc-4fa4-91ae-fffe952800c5 CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c20df2f-2ecb-4f0b-a4a5-762bb49e8012 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c55e64d-4d68-4183-bda1-964148d95082 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d80c7c9-8895-40aa-b3e9-da5880a67ba6 CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d2af8e7-bb61-4814-b5f8-c576f91bed02 CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed49940-ceca-41db-b58c-90120920c708 CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 769d26bc-4553-4f10-bbdc-02c9bdd75690 CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44dfa41-8bae-45ea-8062-44c9e07ac117 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a2ed68a-f608-4af0-bd1a-7c2a12af00fc CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9699551b-be5f-4b17-88f0-05b13aec3056 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3291b665-8452-4422-8e6f-0a3f5cf962be CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c5a3aae-aa00-4e49-bae4-dd038d1db3e9 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51a3d472-1bdb-44c4-ac52-89e7a2f5ae22 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19caf02e-b481-4441-bfaa-4544f9965903 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebaaf61a-e1bf-4bb4-867d-bd8855ab51a2 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c06de6-9d1a-4fdc-b8d0-ccbf4189ab1e CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7647bb67-be5d-43f8-820d-431a98795ac7 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6cc3b6-7410-4bff-b059-088c11a4ac36 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcbd42bc-730f-4d01-8deb-d24836c5f149 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b82a2bed-690b-4411-ae31-79c40f81dd6e CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2737e99e-a383-41b2-8c70-a537d020a55c CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ece5083-5923-4051-aa73-6f35709e5db1 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3972ce1-5c5f-49ad-b822-6ba618c5c7c5 CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c32b1dd-04b6-4803-a607-e9669a56d2f9 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8e0be24-e7e6-4373-9fa6-c98bdb1ce362 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a495b704-c7f2-44fc-8623-27846defb9de CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2965abfa-c209-4f32-82ce-ae69c67eafdb CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee09c758-b082-45d8-9b15-e25c7f930fa2 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95b3a074-4543-45d0-8de6-fb68558b2860 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49210fa3-fec2-474c-8ac1-b26239ed8ef1 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33ea2338-c728-40f9-9035-1f5ce31fbc51 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3f57e-47dc-4c09-b21a-75e37cf86451 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52e691b5-498d-4dac-827b-3c202c27eee5 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f8cd11-82fb-4746-95b6-e92a8354c17d CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60d6187a-eaaf-493d-91a2-5b6e9985ae49 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c23d6f-6b7f-44c2-bbc9-8981f46d816a CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b519993e-310f-49d4-8715-566ad90e6625 CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0522f957-d314-48b0-a54a-1f638b023d79 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1d1f91f-50a3-4f53-900a-fc2a6270eb5a CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64fd759-f686-405e-a9b7-c513a54db0ec CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2cdc729-3918-41c2-a9e6-030d8704b7e3 CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18d6268-16df-4d1d-ae25-7e285cf9cd33 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5864329a-0837-431c-99da-ddf9f55c191a CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c73e561-af87-403c-b200-6a73c1763636 CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04ca35da-4be0-4912-88bd-4ae6e1b7d23d CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6be0d4-f287-44d8-acf0-8b005273c14a CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7227aaf-1950-4dee-af31-34c52251c955 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b7b745-b8a1-4bcf-a114-8521e7596962 CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e3a571b-9c74-40f0-b10c-ffed595e853b CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 844142ab-5597-48b7-bc97-a12caf4eee37 CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88dd6a97-45c9-49c9-97c7-97c561067d4e CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a35d21-940b-44c6-9e11-ecf915f1eabd CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fea9434a-517d-426d-9d5a-0637cb1b12a9 CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40240eed-f201-4537-9358-996f44b847fa CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd5bc1a1-7bae-4090-9c47-4b07436272c8 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77ba836-d66e-4a39-b7cd-cf6a435a614b CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69e14b03-c8b9-4537-9e3c-04f93bda1ed7 CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c31b9f6-cc56-47cb-b06b-0742e86faaed CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2ce352-0a76-4529-b6a3-5b198cbe4af6 CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04a890a-490b-4ca3-bd0f-68647c2383fa CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02cb28d2-bea5-4ee7-8580-2f230b96c1a0 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 841e5f50-b198-440e-a551-156cf1b540a2 CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 346a2dac-c7dc-4dd1-af5f-9e382ae19544 CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6bc6dc-47b7-4594-a039-0ee47cec14c8 CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 030ed3f8-26a8-4832-834d-9f9aef1f3445 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b42f5ca-1376-4275-acb1-ae19901d3e3e CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 869d2561-21b4-4087-8a69-bf868459cbe2 CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a3276cb-403d-4988-8300-9a0988955720 CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bafe6faf-6e43-44a7-8301-4b085dab2e8b CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59e3886-d1df-4b15-ae98-3cd5b17ec84a CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbac1ced-1bc6-4b5f-9b0a-3d820e43ae2e CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8686126-72d6-42ee-84ad-488f375e6fd1 CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cce4bfa5-4cd7-4143-8cfd-b52e327a8102 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d9ff65-728e-479e-ad79-f27fe3e44c22 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42f89b4f-b39e-462a-91be-0122bee23f1f CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541baaf3-8951-4324-85b0-5c2b48508e21 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5d4edfb-ce81-48f4-85e5-ceb62f123273 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a06e2c09-4228-4e5f-a990-21e98f6888b3 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3943684-71d3-453d-a2ee-2fc536a5cfc6 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1e75ee-ec9f-43d1-8fb1-c41beccef20d CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1acbf302-1245-4505-83c2-58d56420c323 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fced22b4-9da4-4825-9cb7-8ef0a676faa4 CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4824725-d4af-4117-8f79-61453d42ce13 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa64499-d54b-415a-bd1a-c4667e8185ba CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9671df48-dbc5-45ad-a014-58a04a32331e CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89456caa-724f-4d2b-9178-fe38df4098a1 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 930fb388-7513-46b1-a8c6-54a096a4c59b CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a25ba33-06c7-4fea-b634-8fa4ce6abeb1 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d7369af-2dd3-499a-a5a6-6e9b4b8c4590 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea5e01ee-c4c2-432d-aed1-1fca8df2f40c CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e013f7f-e49e-4be6-bc38-6e844b929e7b CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22681c85-2350-4c08-aec3-c5bb0a9960a1 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 808368fa-7201-451e-a913-efae5592fc22 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081fb81b-f930-4434-9c72-62e6ca3748a0 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80e5bb46-3de6-4877-a651-19524a83ff95 CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f79b2c5-8517-496f-877f-4ff9fb50ca25 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c8e247c-eea1-443f-9521-723ca08d68cf CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3e954e-c58b-4c61-81b0-fa306a7d11c6 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb375ab1-b838-4977-8d16-351d5057c0f0 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84de3ce0-0a47-44b3-89ca-922725457da0 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90acff2d-915a-423a-bed4-2aa0948069f9 CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e92b67e-136d-4b8a-b428-6821d1f2d2dd CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ebc68d7-32ce-436a-a52a-a4fd02f35b30 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a5c63b-2da0-4105-985b-2a6988072351 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d4e7f25-d0f1-490c-8254-acbb59e76f01 CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9309074-f777-4fa3-81ca-47b911b2977a CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dd15211-bd69-47a3-b234-7d97d6d95248 CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 559ef766-c237-468f-b61b-eacf8d1347c6 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4def7a7c-6b9e-457a-bb35-4b69185fad8b CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da566d0-b985-4e8a-9495-a9eff9e004c8 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8df29c16-6be2-457b-b3a3-9a426152d3e8 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64da37a-875d-4a11-8a19-0f03585fab73 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c06f7a8-a108-4895-b151-07a574b615f5 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667ca0ba-11d7-476e-b238-aeab055c6cbb CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43fb1835-6952-4739-a901-d0a90df7aa08 CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b4637d-5927-4937-8ce0-5b182f7b0194 CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e3d3fd6-efd3-481f-9475-2d0283e650cd CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d14895-a989-4921-9e91-c90eb7025675 CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4666624-20bb-4467-bf68-07491efee005 CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf6d00d-8000-46ed-9eca-a72d7a68dace CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 040069c5-dbec-4552-968e-17817a422663 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496e4f5f-2dfc-4ce5-bf93-c7494549dca3 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0d75032-127e-4ae2-8588-6b390bba7bf7 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7644aa70-3e04-4518-adfe-bb29c4b9f21d CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc142b4f-8053-40f9-b222-32b9482f83ac CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce528311-9177-4410-b9f9-77cde357ccd2 CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15ce95e1-f6de-46bf-9f6a-d4937fb982d2 CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078cd556-caab-4820-94ab-ec7ac5ee4f89 CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cd4b186-ad4d-4f81-bcc7-92374486c782 CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d71638-fce8-4658-b542-54cfb8c4f5ae CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8acd4077-4075-4759-b026-7fcb684eefae CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4edf5238-15f5-479d-8d78-d62e4f1105d7 CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ced38a9-78b3-4d7f-b268-5a60814103aa CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386781a7-3f6d-44c1-9fc1-39c0ef46a6c4 CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c36769da-e7cd-4beb-8571-ccf6c415450b CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438392f5-622b-4d25-96ec-068101673d60 CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff99190-7fba-4704-a5d4-e378e9e58c78 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35bebe9e-e5bb-4d3c-9fab-905de6bda99d CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61e7ec9f-12cd-438e-b87b-b7f3c364e26a CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac9f7eb-4a21-4112-b33e-2d15f2d7a68e CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f04917c-a8e9-4658-926d-4e793a253d94 CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4b5c78-29e0-4520-9b26-26b33be44837 CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 279ae91e-470e-47cf-843b-22f99e4b9253 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359df623-510e-4286-8fcb-ff344bc95b86 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86f8a68a-14a6-47fc-a01a-0181ea3b87d1 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a74da06-16f4-4009-af50-7e66d9d83df5 CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02f9fede-8e69-4bdb-938a-db34cae7ffbb CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dac2cf4a-f7ac-41f0-997a-3f41bb27a3d0 CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08e6285f-2604-4cb1-8f5a-2aae28a4c046 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46edb7b-72cf-47c0-84f6-d22e301b06ac CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9881680-6c23-45fd-9558-837ac4150923 CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af744cb-3a3f-4d65-81e5-85ea7988682a CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a80229d-632c-47da-b230-bdcfd60bd97c CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6ef502-7222-4eab-9b3d-fc026bb77f4e CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0f84958-6ae7-40cd-b0bc-32c7b379417e CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea3a15d-3d08-46cb-8ec2-9b9368aa31c3 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 061d0379-0985-44b0-8339-8531df3012e4 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c69c61-ae32-4a80-830e-0d6517874a6d CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f384ac6a-abfe-4c2d-82bf-fa7e09bd20ba CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c49b20f-24da-4fab-a5e6-9cb1700d59a9 CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5c38ce6-1c62-46c3-9621-db1d408123b8 CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d172b38-e333-4daf-9cdd-a01e70aa6119 CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 515af2a9-19df-4e2a-9e95-e6348bfb7e3c CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b7ca56-15c4-42e7-9558-f9b70fb4d9ee CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 327711bb-b822-4c04-8a9b-51452eea633e CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b29944-97b1-41ee-8ac2-4a92191ef14f CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e734a90-60f1-409c-8031-732be3dc4ff7 CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5da9ab9-5ad3-402e-a62b-1109726d70d8 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9ffefde-78a3-4a4f-b8d1-1321f62c5ba4 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74acef8e-62f9-437c-8475-68cd74ea1632 CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76190d8-0b27-4eee-9546-e2ba30608be7 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a848d983-88cf-4593-98d0-6cc801630fc3 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9951bc95-8c1c-45bc-94bd-2e6d98cd39c0 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4449a6-4b71-4038-8664-ea8bf82e27f6 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 522f702a-e1c6-447c-b8b8-4f6d4b40d990 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8867d2b1-84f0-4c5a-ae83-b2f7caf937e8 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 563d8b26-c326-4ea6-8d72-6c8a3044ea50 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555e07d7-c2a7-4c8e-b2eb-f9e4fd0d82c7 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6e1a21d-89c2-436d-afc2-048d5a26d2ad CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ba9830-8e9a-48de-8655-0814ead03c74 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ae27ae-78bf-456f-a6e0-d2a21d4f8f21 CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d490980f-97d4-4e98-923c-b0e47e6b6bf2 CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20ba1c60-25eb-4e5b-a1b7-8f29c93c289d CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2bf09c3-3480-4f54-8dd8-4154e58d09b1 CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 673fc0bf-6413-4e90-87fd-c83744531a4d CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5800fe6d-9292-4456-bb94-3cf69deb209b CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9be6b64d-6f54-4d4c-af5a-3366119e85c2 CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e7c93f-8423-4d24-b1be-39dc31da8633 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee3d61dc-17ba-4501-8be8-b61cb2a5542b CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14c2b15-6c87-4d37-ad01-1bfc8f9d8605 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eef6dd62-fe9e-4a8a-ad9c-e901b52df35e CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31ae376-ea54-4d4d-8431-4882c90247e5 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3357a1c-bebe-4e5b-abe8-308fbe707d1a CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd0f881-f970-40ad-adb0-05693cd6ef55 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bab2b1e8-00c1-4065-85da-facc160d19c7 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a60b40-5887-4349-bbc2-9e27eb988ce7 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f269cf81-793e-4d30-970e-ec363c364cc9 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c709d828-6a35-4ede-b30d-6961f7c0a269 CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c614ef47-a72b-4a16-87f6-a44cc080393b CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd5bbfa-012e-4b05-9cbb-e4509b11c822 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca43de02-9848-4282-97d7-2e74475694e7 CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5686e5d3-1a7a-4630-ab8b-eed572c98483 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24e22205-91d8-4341-b9db-3138bb03d141 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2797aba4-c707-426f-ad31-2f9739227b19 CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b13818-7b34-43ba-a78c-78712a1b2129 CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6eee65-eb3e-435a-94de-8e93668cb3d2 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a77b819-a2db-435b-b5c8-a8732287fe00 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff0de0a-9077-4451-9a76-24d65f8eccf0 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 409be6bf-55e4-4fa2-b189-af8698f086ad CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa458ad1-3ae4-47c6-9506-9a86b2b607e9 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97fad284-1569-48ba-9c80-bdb1751fed0b CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ccbe5c-35ee-46fa-a7e4-48297fe70570 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef2198b1-0227-4891-a5d0-01e9a317ebd1 CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f82db1-d06b-4b10-95a3-7015c4b51a9e CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87964571-cde0-4db2-93f9-9ad96ae26323 CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e940038-665c-4a60-80f3-c151af415147 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e1dccb2-f27b-48a4-aa53-64b4cd592c2e CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2546add-3a3c-45a6-a3ec-4b9145b63669 CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6926374f-3688-4766-b4e9-90b7b637c87f CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b085413-e02f-44f8-a914-d67ede6ab020 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02623251-e22d-43c8-82b3-ba839771e778 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3791ce-1fb6-4e3b-9e08-e4c8a2f67e71 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b49f54f-3911-4e11-adc6-0b2d44b5cc09 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf34d35e-d73e-44be-bb31-9ba4342e37d8 CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56ab6d3c-1b09-469a-8a35-cf05456ba8f0 CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e49a204-78d0-4ebe-8b69-261841a0ea10 CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a1e3ad9-cd49-44fd-9481-15d5e5a9ffdb CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a25e57e-0160-4b72-81cb-ab3f71a99b3e CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e73a83e-12ea-47d2-a4da-e6efa14bebfb CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b069220c-0518-47dd-8b1d-920258a7fe3f CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ed0230e-38c0-429b-891d-c9353271269d CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f104bc8e-edb1-45db-9e3a-ea84682f81fc CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed304e7d-1e29-45bd-8a39-42581f54d4ae CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0e1797-91b9-4155-b5ec-69b4912b094f CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d923fba6-8422-41c1-98c5-79684fa9fc6a CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48fb0493-68d0-4374-9f3b-d1a24021ca29 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ab8ce75-fd26-4520-9bb4-94a9446af788 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e963965e-079a-4382-a997-7e7ff87128be CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b134b17-209d-4221-b2bf-71455057915a CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b7a236-ee7e-4f20-ba7a-70d43e8405e3 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37d3b512-1a85-4f7b-9f0f-804402639717 CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58aed8c5-4b55-4490-acb5-1756d0930d6c CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0e37d9c-3e24-4485-940a-da0e21360867 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7cc13d-29e2-4456-b9fe-037e8815b7af CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f83377-b81f-4515-926e-16c9a39e7499 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a5f3d2-97d2-400c-ae83-dc8acc61eac9 CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e20cfe2-4763-40eb-ae41-718e1e73546e CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332ca15e-6f3e-4531-a228-518fdfb0fcaf CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7e814bf-5035-45cb-9736-9367a01629f6 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a427b88-2a4c-409a-b6dc-2e43979bc102 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce9c6d4-753d-4468-8cb4-f37b0a775ce9 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7feda17-2a6d-461b-b761-b427160e5c00 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2aaff972-f962-4343-abb0-f3c5fb4f856a CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5d20fd-413a-48b9-9863-6a552d7a32e7 CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02f499da-1a33-42ee-8045-d494deb2a27f CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19b8aa5-8498-440b-aca7-e883762ba2dc CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57edc96-0117-4614-8d57-961fe8ca9829 CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeded701-91cf-4c11-a008-4c1128202754 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 300e3558-c53d-498d-8f83-6be0814f0a74 CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03669737-2e68-47be-a622-c5fe0439bdfe CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ff10e70-4c20-4206-b92c-73c1da996b0b CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd58d93-d708-4a69-84c2-1c4919f68225 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8868018d-fc40-4884-8187-236a3e7ec77e CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c820c3b-2714-4d0a-a800-72446e48c8d3 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1675920-2f28-4549-8b4b-a0aa0ef92354 CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a3b840-a0d9-4b80-9d7f-f442fe85f141 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5caadcc-f085-4708-9a96-5b1d82e91bf4 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7c37c2-ebda-419a-b12f-663892ece563 CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83f00b53-bcbb-4477-b249-2b7e4b595322 CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e97221-10fc-42b2-89a4-84cc10e452e7 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f52673b-7439-4c81-b729-708f0dcf46a7 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd959d8-4202-4407-bf17-24d91c7ac80c CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 949c3dbb-d85a-4008-82b7-7c562b23afc2 CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f30e60a6-785a-4632-a45e-a7ae0326efe7 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61279648-4508-4a5b-847f-7f493cf12dc0 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3048e3-fcd8-4ba0-81c4-c04a24db08e9 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12998cb1-d22e-4a83-aa87-aad57b9c83a0 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7c996b-3316-4201-b008-9351f39031bd CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a8e97e3-429d-4a01-a839-e3be63a65632 CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d94fa1-6a2e-4668-be58-f494286d2327 CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b61b0dd-f562-412f-981d-c1817133dd4c CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d771db-1cd5-4b26-986d-cb37879d55d7 CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83a7e4ea-3bea-409f-8430-d223ffcac2f5 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8af34c-2eb6-4e12-bf65-6577f4c2f181 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb9beb1-1ad7-4600-af1a-223c21f5d3d1 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb5640a-ab90-48ca-891f-d6b09f095aa6 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e990b44-d088-40f6-8bf3-32ead9f4fbb6 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a2e073-acef-48a8-ad32-60a85a102a0b CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29e15ba5-488e-4a4f-85c6-41814e6df41e CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127c9358-df00-4163-b45e-57e5e1568bc4 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cb79de4-fddd-4c76-8a15-bd2d8447367e CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d55ad7-1af1-41c8-a6e1-ecec22699925 CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d582c3d8-e4c9-4c16-b247-0957e48cf83c CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd249aa-ef6e-4442-a4d5-dda7e23a5a07 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66da9244-2022-4b89-a2ec-d32154e7f954 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9bef1ae-5755-429f-a9ed-388d3decb781 CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fc3afe6-b144-4879-af88-6de839edd3fb CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c338e984-044d-4dbc-8a72-d7901b908e28 CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2cbe02-7fa2-4f4b-8308-684fd16edf43 CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada06d22-7999-4398-b44d-5569813fcea1 CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af9147cc-1eea-4bde-b860-d52e7365f6fc CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65cbba9b-df83-4aef-8fdc-1df63ffa5169 CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c56a0e97-0f59-49bc-bb3f-c5206bbab468 CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96493c02-d0b6-435e-87f0-a98f8df96301 CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98b77bbe-ed34-47c0-a06c-56fa0116b932 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2fdac9-ed46-4191-8913-d4dfa3350c6c CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5ed7bc0-3835-4d6d-bf62-3f9684c38419 CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550cdea9-6caf-43b6-820a-d6ac304b50a0 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 265b9f0d-b7ee-41db-8878-073221d888e4 CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7b085f-f7cb-4972-8b5d-19b1547b2842 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1491fc36-65ec-444a-b40f-77ab0af73425 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70561a98-6564-4c05-9f35-3f8350ac32fb CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9177496-8fc5-4da3-a10d-bd3423439ae0 CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b06bbc-1fd1-4fd1-874a-93d28d92f189 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7b6d25c-d7f4-4187-a63c-33c6e2fa733c CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb6c020-c883-4bdf-aa70-19825c38e82b CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3669e3ab-b7a3-4c1d-92cf-06ed327c5517 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c5a24be-68ca-48c4-ac00-1d5270678a43 CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36ad2665-728f-498b-ac96-fd7dd3b87e1e CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f92ee8-f3b7-4469-87cf-83dc4fc2d7bb CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce59fc30-29b0-4e2e-a27e-5a1fa45275a4 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55faf5b6-7c28-46fd-9240-f43114ae947c CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c21d08aa-f259-4056-9f3b-368a368de405 CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42804612-f7ec-416a-bdd8-36b5990f4a87 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da568e85-21d1-4c37-bf02-4b38824b1890 CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156bd7b7-83ee-4d64-9bb8-efce9a5ee372 CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 771c2103-e4ca-4b85-b1cf-23ac49b8b923 CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ec98f7-aa2a-4dec-a1b8-49e2a8e66b98 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a93d836-275e-4173-9b0e-59f90ff4e36f CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9f98f1-8f0e-4b18-9b55-6e6be1900005 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b72244b-1ded-424c-81d6-3136cf69e127 CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18202926-65d4-448d-b7bf-0b680858c350 CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 781c27cc-4224-4b63-a8ad-21a4418ab50d CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b52f8db-0f05-4fa7-8ccb-7a35c60f8ca0 CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e059767-ef3f-449a-8fb4-260541f8189a CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c7690f-0f56-407b-ae43-ab14f74d1aca CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98bc39fe-fb3f-4805-945f-1f21ddcc428e CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9289d75-897f-4382-a929-83fcbf51b0e4 CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e65c0bbc-b336-421e-97b9-a7ba59ae8e5d CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d97dc2ad-67a0-4e90-8a7b-f1e1be221fa4 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c57ffba-9739-4b57-b174-6612e802ad84 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf43bee5-4b8f-4500-8ac4-b4392e1854d8 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03b89cc3-32c7-4f17-8d92-78a1354a2847 CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8194628c-602c-4012-92af-cee17c0d52c6 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb358df6-0e64-4893-8556-506afdef8294 CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ee997e-a465-4708-87ae-9fb32a41f4e1 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4ae7c30-e50b-4da4-8ed7-1011963ff6fd CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b18ce2-40b1-4962-ac0b-54f6aac9e82a CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8089bfea-d926-435a-aa66-8a30adbf53f3 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36afe533-01ff-420c-b222-27691d2f1eb2 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34b9e368-4b9b-447a-a59c-d5f65bde4ef4 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abe4b9b-ae03-45f0-b2f5-3018fe3b85c3 CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb858811-9ac3-4618-a551-7b2f72884719 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4f72dc-e58f-4b33-bfb8-96c71fa254e3 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4644ddfc-0750-4af7-b3e3-ff320d031a8a CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f994ef-2664-4157-9670-373d555ba60f CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23b36fed-d514-4eef-8b75-33fe9ca6e26c CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f822c2-6770-4987-94e7-f74e813a383a CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd8046e5-21f2-4c23-bcc8-0de979db35e2 CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2459b039-f785-44f8-9572-092b818746d9 CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c72300d1-f0ca-42b3-99d2-12d7600f3291 CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff602e07-9e89-4c8e-8197-2b9eade36c4e CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 082b118e-fef3-4168-9ded-0eecf2ca6548 CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183bb811-d92f-42a0-8f1c-8f184137cb30 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08a05fb6-67be-435d-93e1-7f90eb038b8f CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190699b3-0d87-4485-826f-35e947b47b51 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 605f4720-2dc7-4ec2-a7db-80f2e1d703bf CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c24516-1e6a-4d4f-aacd-a0821449d2b1 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fe5825b-6fad-4766-ad45-c8b306b93e2d CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f921c125-98a6-43d7-9def-b8ff7ee39f06 CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c9fdbb5-699a-4957-b128-708fb0c2f500 CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb013c0-c125-43d3-b5d3-2c496f896f90 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70b36a73-a3b3-4b65-b2f9-d9e90a253eb9 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ced881-8e3d-4340-b992-f91fdff7f55c CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b498abec-1d8f-4c53-bedb-731dcbc3939d CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894935a9-4e97-46e0-86e6-754b58bc020b CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd8f9af3-c980-4b01-97f5-01cbcaa6c4a2 CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151f51a1-7faf-4e39-8186-0e8e6fb40a0e CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da1f3ad-325e-460b-8caf-fb5b5c56bdfa CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8217d2-38c3-4cb2-a605-2f7c8aef97f4 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a54fa059-479b-470c-8120-b8d50033e7ac CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c602fb6-0f75-481e-9969-6c0825c613a3 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5796477-8c19-4618-960f-58f3b027a16f CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61bef317-280c-40f4-83f0-fe5abc034b0b CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f2f8a20-0180-4400-ae81-c71775818553 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4534270d-c2de-4389-9a10-c50dc8cf22b2 CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2a2d61d-aa1c-4dda-bdde-97f8834d8401 CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fdcf13-d1cb-475d-8377-9e18ccbaa4d9 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d164f71-7c4b-4152-9db2-a004e97a7f7b CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6653c19-c328-47ae-96bc-525f5853f97b CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f14abb7-42df-42fb-b0dc-1237eb10ee95 CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67210d2-a7ea-4adf-9620-0908c0e9a223 CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 443e7555-f0a4-4e33-a3c2-1ce1842e4ebb CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f325a6de-6f0b-4a70-8604-2b2eb6459910 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b74dde4-739c-4164-9d06-3b80bfdbc733 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cec9e5d-c147-4112-ba0a-6852e30e777a CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fb6dff5-7440-4d57-9139-a2443722575d CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2a9de6-61dd-4f93-b252-91fcc0c69df8 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f38ba77-3b2d-4ba2-9d4b-2a46b468e541 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804fb871-f9f1-4de9-82c3-236bd3e1243b CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9254c16d-d255-4662-bd4d-602b5de9bfef CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32fe8f2-4118-40ed-b97f-ed005fde1c4d CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6589ce9-7045-48b2-a7a7-9e79c0d4c8c0 CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001159b3-62d3-4bdf-ac7a-d3cd780fa6c9 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd8fdeed-a7c8-4fc8-b780-be9ad4a5fc3a CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bb36d5-fdd6-40d3-a5be-adca4d3f9cf2 CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e105eaa-a42e-468d-8d70-baf32eeda5c5 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1349649-c305-4086-9c79-2761a036e48d CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b2e0f5a-bf4e-4acc-a133-7e6e292b20c8 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21231857-a763-47b2-a800-c43e8f6676cd CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65cee0e9-8cb5-411c-adb1-1c7860f68c7c CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea659a41-4623-4aac-8004-f56059719add CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99929f1f-db64-48db-808f-e20ee4baeafb CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9457682f-3428-4116-ade6-90d8b074d21b CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b700857c-c53f-4ced-9fd3-0c162d36ad29 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63de058-2554-451e-a36f-b752043ee798 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1315a6bf-d593-44e0-b0e9-6084eea4f2cb CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d8267b-0911-49e2-9163-41da512d36d1 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a795c4d-f9c4-4df7-a5b8-8ed8ed6681ff CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718616e5-f7a6-45f5-a595-31464b028447 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0023356d-3ed7-4199-bf30-a6f2b5a33b1d CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b467283-d987-45ea-b164-0a9c1f341eb9 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ca2d75f-081a-4bcf-9617-b9b9124f2e5b CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee31f61b-beaf-44fa-9c74-adee00a5d548 CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42ff91bd-25a2-4672-b6e7-0654c7a853da CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0934cb35-0164-42ee-b47d-c90b3c4c0a49 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6510cb9c-15d2-43ce-9d46-271b3307eb44 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd701132-d22f-4cdf-8803-d2872ccdf330 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d607fd97-b9c0-4b39-a69b-d3f96b55fe72 CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3d91d6-483a-46e1-a53f-38529b034aaf CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fadbbb8e-91fb-49cc-8c79-b7830d470072 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 966c0871-306f-47a0-95aa-5dd3239f2aca CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c927902d-2f2f-4a06-a48f-7a4cac83f42c CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5adf998-7589-4974-b42b-831ac3b8c11d CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b310f593-a901-4998-83c5-7e7320cb2746 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297c0ce5-fcb7-4c1c-bf2d-f347cb51cab8 CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45a71bae-c907-4d54-b2e4-5962665b3fbe CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181a26a3-1f0c-4b62-ac80-609abe63685c CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40566120-0e14-4a79-ad0d-2a8939744e47 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ab953f-2a2b-4b18-a7bf-adc4f86c690d CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa95be46-60e4-4634-bec4-93074ff71c3c CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1d8f57-c6e1-4910-9a2a-c5f3f2988399 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cca090c2-c48e-40e0-b49c-dea1513e6eba CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fe0822-089d-4078-b1da-ee62160c0729 CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7df5a95-e8e1-4c4e-b89d-c2c57479833e CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02da7831-ba9d-4c57-90e7-5203787fe16f CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d80713-76b8-40ff-8dff-788beadec423 CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec8687a-ab63-480d-a612-c1583b8824e5 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df1c2098-3dff-4a2f-ac40-df240723908d CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e561801f-68e8-4a34-8c7f-ead35d31efe4 CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8bdde31-a38c-445a-a108-1ff012aae856 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179a1699-dcb0-48fe-88e4-473700635d3b CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe6b7da3-35d3-4a58-b974-901f9f022cda CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45699771-3abb-418a-9aaf-6015e623d370 CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ddddbee-a7f4-4358-a9cf-6a6acd42b9e6 CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b7eacf-17bb-4223-8051-ccc6c77b092c CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b85336b-ad33-424d-8baf-b03267a165d7 CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ffd3c06-3850-46cc-9b4f-7ef81817c1f7 CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a064e997-8f84-4f07-913d-447c8cb85631 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c91049-dd3c-4204-a224-89d864ba292d CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8d1407d-f4b2-4e11-aeb7-ef81c8382894 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa419a2-b412-416d-bcb3-76439d411eda CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6181c5f-a76b-47f2-a611-e941213cd878 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb9873-f0dd-4152-8893-db09e9fac2c5 CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ac3948-48a7-47f8-8277-86e50b5b3484 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb7fdc6-fed5-4a94-af6f-6dfc10e7d212 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3650ce1c-7125-4a80-9d78-586bc9e143e2 CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab900239-acaf-4290-941e-83a6434cd81e CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b95038b5-d153-4428-b3ba-9489a8de86da CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f547cf8c-0a43-4e88-8476-2762dffb26b1 CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3716ff6e-b11d-4def-9cf9-4a386c7aecae CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dbabf3-1dfa-43ae-90ff-7b73105833dd CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f3c7676-d26d-4173-963a-6cc886eebeb2 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efb1daa-e9d8-4ba4-aede-f87415209901 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d374da52-8ab5-4b98-aba6-d996949ce647 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901585e7-5979-4f03-a4b4-fdcdbe14edb6 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad8dfe06-1c5e-4790-bd62-fb1022d5618c CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8583b75-deb7-4e9d-ba60-521e337bbcd3 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0bc9820-a4d7-412e-bc42-c13593665e91 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281fa9b7-a69d-4822-8785-bc5986b64f0a CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7177183-15f7-411b-804b-419276b12768 CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec28d414-8bd0-4b45-9882-62e272de648a CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adcaf1ea-da84-4bd5-97ac-16a36947bf77 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91562113-0470-47f5-ae89-b3c78ce8b9a7 CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5eed5a5-a2f2-43e5-9840-e19d994ad719 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b773bc3-fae3-48cf-aaea-5f7f1e747f10 CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a499f92-d8b5-45dc-98da-350993a23604 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4339afd2-4bf3-4ea3-8045-6bbb86aef518 CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3632b3df-0678-47b8-a7ef-04a010a7e067 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da25912a-7960-469b-a4d0-58f516063251 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c132d1a2-6dfe-4b37-8d3c-a7f9468e902a CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f576cd80-9c03-4fd4-8d77-4436ec1cfd16 CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 830461d4-4c48-47e0-a462-14dc6c6b7484 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66077dfb-fae0-4adb-96de-1753108385a2 CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42b4ec07-4514-40fb-9879-fdf76fa4842b CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcf1978-2efa-471d-8a33-8dfedf03ba4f CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 941db970-2bb2-4926-a79d-1248ecd2fde0 CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619810fb-90d7-4dd5-bc8e-a8111ec12860 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08348a5a-61e9-4e16-86c4-c27c737f47dd CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97418aa8-9873-4f44-b1bd-8ed96bd98f97 CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94cccc23-f80f-49f1-881a-30f8b12b81aa CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0c0ffa-6b5e-43b2-8a3f-f26938f9725a CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b32b4b9f-3c39-4ba2-b973-1c3bb88525f4 CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de7c4d5-50b6-49a2-9563-423bec905beb CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9face2b-8716-4fa2-9530-760fa3b24f03 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd982ac-b320-471d-88ed-4766f163cf90 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a9cc7ce-92c2-47ae-9ac4-07bbc993f74b CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec47fcac-1349-4b57-ae8e-234e9f19d992 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9415a079-3c10-488c-96b2-d61f171deeec CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e945300-54c8-460a-993c-e24f3012f340 CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0ed0d86-4022-40fa-8a25-ed4a5705a91e CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e15eb7f-d128-4f23-b410-e00a0d3935e9 CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cf885bb-5ff0-46da-bcf6-d75708dbb6d3 CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee757913-0103-4599-b9c5-7a8a8a1d5aea CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26e9ced2-3ab5-415c-9194-9b7ca60f00d7 CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0846a2-d993-4769-b2c8-c3f9c8a70234 CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7daaac53-328c-4e26-a989-d1174edb3b7f CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4f0441-4c81-4152-82d2-653b4ca0509e CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e81a6ccc-e27c-42e8-a2f0-d853da785d19 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a38a08-5ad4-4213-a31d-9889c97564a9 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90e67549-f54d-4e02-8bd4-3216a4a5e6a3 CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8fed95-acff-4852-b48f-95acb5e74738 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 810ff124-3557-42dc-824b-32fbed4055d5 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be51b0a9-d2f1-423f-ae8f-17571c19d0d2 CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ae01f50-29af-4777-b979-ba30eca4646f CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b7eafa-bcc7-493d-aeac-69aea3240959 CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7d87b85-4fdd-4f68-b5ee-93ab1a2b7508 CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f268d083-696a-4310-9789-ebc17d3a1f8b CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 780704c1-8f77-40ae-98ca-c38742df1e08 CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779c96ac-7075-44da-a970-86875044c9f3 CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4e56c8-89b8-4701-874b-5fc66974f62d CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a36b1e-54ae-48ee-8710-3e7acaa505d9 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6fbee04-2d81-4404-bb64-efd90392188b CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca41ca6-4867-49b3-83ee-8a5d601848b0 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e9798c8-bf57-404b-a9ce-d070f95ebb85 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79afb1f-ca9d-4c98-b4ca-74e0b367b634 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f02963f-59c5-4cf4-804a-d3b38c108395 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2fbd0e6-3bbe-4eab-97a2-a2f3648ebfe0 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a139392d-1ecf-41df-87cc-182c43cfdc13 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9c2691-08f8-427a-979b-7f4b96429576 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9dd3174-88ab-414c-b01e-6b6aa2d02a50 CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d732de62-0ba7-4a5a-b869-1351d1e3ede6 CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea8e0986-46da-41bd-8969-06076dde1553 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3260c5ad-887f-48b5-8d97-58e51a5e5087 CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d2625a5-39f1-48cb-8fb0-71304f2e3bfb CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64433fc-ee1b-4fe9-97e3-1e75ccd2f10a CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b716f2a-1aaf-41a5-9a68-c8d5aba53108 CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301664ef-b4fb-48f2-8bf2-d7d84707b8a1 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 575450d6-d010-46ec-8514-8fb059d69eb6 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c54bf88-c9d7-4e9d-bc66-22e53552a951 CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2690b62-36b0-4cfd-83f1-45606b3ca7b1 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04156e46-204a-4fed-b919-193a3b75120b CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8353841-ed99-4914-afd2-a67afed888c9 CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53f1afe-99e1-465e-853c-74097f0820b4 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39eaf3b1-2566-491c-a740-d21fd2fe2d35 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be115c50-ee8a-438b-81a6-b75b36b792e0 CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f81844ad-b05d-40e3-82fb-fa615d591043 CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa942f57-dbf7-432b-bf3e-12300b537824 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a711b51-d363-4e68-946c-b52c69450dea CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9947b482-2f04-491e-a6de-459d84b4c59a CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bb79e4e-85de-4d49-b7a7-839967d5509e CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c5960e-b45b-4706-ba1f-ff3ffba20703 CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2105861-7ef2-45bb-9a3b-b701dbf3fb77 CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913a0a83-b093-405e-8a31-5df2abda9502 CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c067268-b2ce-4294-a7d8-17015577d0bc CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc4b2f4-c26f-4ac6-b3a3-3c0fff244afa CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94be0a73-3e70-427c-86df-3a9d139c7c25 CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b38527-14ea-4afa-88a9-335cb873098e CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e68505c9-b827-430c-aa52-8f3bb809a866 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ea8399-8885-4110-982a-01ce6883002d CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b694226b-06be-44d7-8748-fa0e42079599 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48132e93-81ac-4efd-8af4-66f0c8524bb1 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3e4ead6-2c6b-4dce-9176-741edf92a790 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce20f81a-0149-42cc-ac60-c1b206c78198 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6519c5ee-2694-4a3f-8647-01f4772a8e30 CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428accb3-466d-4723-9d5e-c1a3d607640d CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3cdcdac-7f50-409f-b380-d9a0140bd112 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100d0711-87a2-452e-ab71-48a413a95585 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff397f09-b145-45a0-a2ab-6d3a09a7eb2a CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbb70a2-faf4-47b4-b13c-75f6d7847c16 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe06ef3-3f91-45ac-a496-f15a9f7fca1a CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43467994-05ba-4583-99bd-93a75365d416 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6771815d-a60b-4f75-af37-15600b859837 CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8aba7c-0287-46e9-8fea-db8e08f229de CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efd71bde-5c52-41e7-b793-9e2be2bafad0 CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bfff0fa-260b-4f68-b26e-9936dcb8a578 CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 097ba29f-16f3-4441-b44f-5e24b877590c CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08338fd1-26d7-4c0f-b277-1768b3d04ae7 CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d3a4a3d-4deb-4f04-bfa3-0034b086176a CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac4df98-3b25-42df-9b92-63383307a1d4 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 960c1d0b-439f-4a2c-bf08-04d7f1dd73f1 CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68699a0d-f5ec-4a27-b80c-bae3a4d8ab10 CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9949cce3-5a90-45a1-a688-f9f14c5ba462 CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11d1a4a-1ec1-4b91-b0f5-520dea1516f2 CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5562b95-5823-4ed0-ab18-8b13686adf7d CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b838526f-f10c-41ff-86dd-e1d2f7e6293c CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0405568e-41b5-4757-b777-dc22b3d10927 CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf9091b-01ea-4bc7-9795-79e07a0e7e70 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90791aad-fd46-41f5-9ca4-e0cbc7eef17e CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b12fb21-4d3a-47c4-a8f0-0c5cf4434cf0 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d13cc7c-aba4-40dd-aff9-0cdea637d46e CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfa7e9a-f254-4c48-a0ab-ff75a50ae80e CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f67476-c542-4e6c-9784-3ee6a0f8aa69 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ce94ce-6de7-451c-8d5c-93d9862840b8 CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3361dc81-f539-405d-92c3-fa125aa4559c CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5945dbf1-f89e-4175-a35a-56729c214b12 CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb15f175-f48d-4d09-93b5-54e46df5cec1 CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8183961a-aa5c-4f39-8649-8561c9d60024 CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95338094-158b-4dfa-8238-bd051d2d943a CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b02347-fc24-46b8-b335-12ac25365a83 CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce7ebaeb-8550-427c-8680-8500b1733873 CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa50b54-0764-4bc9-a3cf-acdd066bcfb3 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce3f7869-c782-4366-93e9-a4b8521ffe2f CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd15ccd-2d38-4bf2-9560-49e426862f42 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4449de22-551b-4c4a-9434-535c6248cc45 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc385124-9801-457a-813c-a6f8e0717702 CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb1870a2-4193-4f02-a6d1-c0c8251e655c CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c70d69b-f3e0-4833-8f45-5f28bac41eab CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 771b2481-4d88-4ece-a0ea-eb3d505ac7a2 CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d031424a-3d51-459e-9259-2a265f3c659e CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbaa1a9d-0e5b-4711-bcba-3d57443e7315 CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9b42b0-ae09-4d82-a737-07cf0eefb476 CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7969de53-8a04-4fb4-bd53-f1b9b5163fce CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df828ff-0656-4ae6-b71a-cc666889d2ba CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92d27d4a-4f64-49a3-951f-72395ae157bb CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93d3d42-5a6b-44fa-bc98-2cc0bfed81d8 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24d45ff3-3c50-4850-b872-f631a7658e76 CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d543c00-55c1-4ce4-894e-9ffd6196cddd CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c808397-57db-4cb8-8548-ca60c1a34ff0 CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62095e56-a6de-4e28-9cff-82f1a5b44bc7 CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85235661-63ea-4fc7-af44-05111399d5d6 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf578a5-895a-4735-a0e4-2b63a3ee082d CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cf04125-d6d3-4a0c-a132-66edb9d02f83 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e1ac47-fe89-43e4-8713-29c89199bb31 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a352355-7f1c-435b-9ef0-844a14077470 CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc6f313-842c-4ece-bb71-8bcfeba50c9c CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e01bbf5-dd41-413b-9fc5-c8b31fad82f0 CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1bf29d-7946-47fb-881d-22fd4cd5d883 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ac4612-ace9-4802-9f01-d996f65c4c62 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb41548-acc6-45d0-ae98-c2223945d0c6 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21b4ee77-ccdb-478f-8670-bbd1850d7679 CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9318cc-6299-4cf0-a801-34b5a695669f CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7da5538-ba0c-4fa3-ab81-3c2e35119d0e CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d54f76-0243-443a-a4a6-affa7c76c681 CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5679e56a-5130-4a32-bd46-883fc9f9a004 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5815da54-c7cc-49f4-a2c6-421e0dc33d70 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1dab2f5-9596-47bc-9f78-ab5db569b91f CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e1f668-5866-4c5a-90ec-1abc6b59c5d4 CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e69f4a40-e6f5-45d5-9d24-d82ea390c325 CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc369a3c-0f61-4997-bdc7-4c03ca57fb66 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ab1cb47-4e16-466b-94bc-efdb7e3aeaf1 CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04534bb9-8872-4a2e-8fba-041bb1edeca8 CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 743c4a69-de1d-41df-9ab4-277869660ce0 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cc6587-c226-42a4-aa5d-cb3ca8ec2396 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebde418d-3ca6-4621-b6f6-19a4babbb95a CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f8caca-16b3-487f-8663-b97db288eba4 CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 664f175c-f420-48bb-99cf-96ccfec500b1 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ebfeed-60b8-4228-9693-e920f4912891 CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 702c91b7-cec0-48ea-bf28-6b80f86fcfa3 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51fc6f5-fba2-4397-ab35-719b5e0a23e9 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6a6f81f-6bd1-4a5b-bf33-984c2e1a5250 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b43a6e6b-cdaf-47cf-ab12-4eb94cfb0814 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2cc54ea-97ee-4a0f-bf12-6526660964ce CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30407cb-6ba9-4ef8-9d4d-602235690c15 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de7a4110-5a58-490a-a169-63f78175437c CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67927f7-4acf-43e2-bf1c-520c50f64867 CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b20cf670-e946-4011-b069-47750d804a5a CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6196fb1d-fbc1-4caa-a607-4b7e8aab2e16 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8225b025-10be-4bbf-baa0-a961214f3f1f CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35578f8-e25c-4732-9d81-647ec28849bf CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b091847-6ea2-47c4-a29e-996fd2ea080d CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf06802f-0f36-4825-a323-bceefea801af CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e45a346-4200-482a-b72d-59be0cd58d28 CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67027095-a6e9-4e49-af14-dbec65e791be CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ec36406-c9ed-4194-9b18-64d5e309ba3b CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62180fa2-7c2e-48a9-8984-541e55a7480d CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddad17c8-d034-4de0-b11d-ab46ecd5b6a0 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e0a223-5e1b-4d14-966d-c95b11ddec90 CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3944671-cab3-4756-877d-f65c70242c02 CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32936be6-3a5e-4db0-9f84-329100d22c74 CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fbb10c6-a6be-4fe5-9907-3927fe7b60c9 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f37362-511e-413a-9b73-9d25c9b17000 CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2104b852-d96b-409c-adb6-e6bcb90a5f22 CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c64cee-631b-4706-8f5a-8a11bf439e42 CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a59e3a80-f3e5-4e91-856e-58bff415cd44 CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62776136-850f-4781-a291-602ee331486c CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7a67be7-bcb5-4f08-bbc2-68463f189ddc CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc857aa-70ab-48ad-91c6-764519d30393 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2808710e-cf7d-4cd6-b36d-1c668437f691 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667fa885-b8b6-48c0-9c4e-1bb375d95107 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd40e644-2b09-45d2-bbd0-eb930c3fc813 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8d2af3-84ff-4fbd-a9ce-f0c1c8433aa1 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 626a4363-ba91-43b7-a90c-3b0ea2cbc75b CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aec20ef-e022-46ea-a453-f86fd6979807 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 759baab1-973c-4f15-a2ff-7563d63e720c CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdda2827-d90a-4e72-a819-def0119b8809 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3657370d-dec6-4a5e-94e5-bf81cad79481 CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba076102-26b1-448f-9be4-b3ef539a20f8 CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2296b125-014b-44ed-b7ed-9a760b9b1d92 CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a9ed56-3a18-4af6-860d-457c99608264 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 336be535-0407-490c-99a4-04d9fe131580 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c535002f-c801-4fcc-93d1-917a4ac06d54 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2893bd7a-d171-4a3a-af80-2ea1193a37a3 CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f84197-4b94-4e4d-b22f-eef4653e397b CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 587effd6-700b-499a-972c-5239254f37db CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683372c7-7be6-4f03-bb7b-6452b56da6aa CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b82c8f0-35d1-4e1f-8348-74785d1406c4 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b46baf-7dc9-4bb4-9bdf-868327f35b8e CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25c40a64-f762-4903-8aca-ff91972e33c6 CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fa3e90-b887-44f7-82cd-ce0cd1479d25 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c6363f6-4564-4adc-9bc6-15c1f9c0bad1 CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe520c9-e2b0-4b91-8580-575bf9a0d78d CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba2a50a2-8589-4029-ad55-66419869b32c CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257baeb5-3e18-4df6-9ef1-84d80a41944b CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c56114a4-300f-4be7-a7e8-5c37fe940cb0 CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54319e7b-feff-4a56-8ad8-c823c1e8707b CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ba8b5c-c33f-4d9e-9e49-b69c6d1d5f9c CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa003bd-ec81-49a9-9252-cfda193af7b8 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e18e1cf-7807-48c6-8c7a-47aebde7bc2e CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a06c7b-fbd8-4865-8cb4-30533c195caf CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 611ba7f8-b139-4015-84a4-f9369d6bd4b7 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced789ac-b195-478f-8343-2f49bcac04f8 CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7f230b-ee1c-4ce3-b823-6abdca7d7117 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84629eb-58d2-4eeb-8c5e-443d47ad13d6 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d18804e2-8d3a-4dcb-9bd4-452b8b791be2 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9983c40-2bd6-49fb-8259-fffd3f5a9ad1 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e6f1627-0344-41a1-bfc3-fcf5349e4266 CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7150fb-7e76-4e61-97e5-ce7b52cc0c4a CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71363410-6b43-415f-992e-ff39788ad022 CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237c46d6-ab42-4c40-ba6f-fed6393bb4c1 CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 043d550f-61cc-4987-81ed-dbbfa0aed9b7 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed7776b-35a8-4721-bb41-75ef7af6539c CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c811672-9b46-42d6-afff-88e93785828c CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a466e1a6-21af-4ebc-a957-4b557cf163b7 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c38b232-6d45-4196-8993-61a7acc13456 CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d77f6b-4ee5-466d-9c96-00e2dd34cec5 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2570a51b-7249-4e76-bd75-8f0de3260039 CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddee6bd5-1ffd-49c2-b065-3d8ac9507fcd CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fbf05f7-e2e4-4b8c-914a-6e580767fd5a CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c200b587-4900-4970-afb1-a0d176413469 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffc7c851-7bc6-4e06-bc0f-87b591ddb842 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df99b658-d43d-4b3c-b080-766337cfe316 CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71488cc5-6dc5-43a6-b216-3ab4c9dca8b4 CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bec28e-151d-44fd-9387-f42f706492c0 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00db64a0-e867-408d-9128-7940001e1147 CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d698a8f-f4eb-4667-96c3-c56a102c92ad CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b441350b-7768-4a27-a335-2cb4dd4466bf CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1c2318-49fe-4930-ae04-f0e175fb2f07 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d6eb4fc-3459-4cc5-afeb-21ce426b62ae CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e115a3f-d646-4620-89ca-6b8c97229ccb CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04eb51c3-20b9-4372-8ce2-93b4fd0f3fc9 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc838395-79c8-4476-8966-7223201b2272 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12ae90af-6ecb-490d-95fb-02a843afab63 CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfcf674-596d-4aa0-9d28-19e288f895e0 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d15fa93a-d374-473a-ae5d-ee2714d1b628 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7950af7d-469a-40b7-a66a-3f70283706c7 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bdcf4b8-ac3a-4e80-bbf1-2fdbd7992d9c CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880150a1-5512-4d62-b2cf-bb5b8e67f549 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cae0d1e5-49f1-4771-bf67-3fce39534811 CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5d0f5e-3f3e-4bef-b510-82f029fc52ab CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e3f109-d3e2-44e2-8b23-8e26c29ee02c CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10aeddce-a779-4690-b53f-a18332e8a7a6 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c967f13d-85dc-4c14-b8a1-75de19ca63ca CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4fabb9-484f-4b4f-a6a7-f66f846172ac CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdee87e3-7b90-4a85-aeaf-d40e17589b88 CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a05cf4-1b08-4180-b4f6-512ccce53c40 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59af249e-6238-4e26-be87-18ad7b4c4eac CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b142a36-be5a-42db-b94f-3c63df28cd64 CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd9cb7a8-a65e-4dcd-8328-39beceb3df10 CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f0f61b-de9f-47f2-bb6b-e5487afaf2fa CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 515eb898-2ac8-4736-ab7e-6f2d5888e84d CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c3e4a2-86af-4206-87b6-4246c9074589 CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e5ed28f-5641-4b10-a874-689988cbac22 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0a94db-2896-4b63-8e80-26cce35629c8 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38b033b2-b0ee-4acb-852f-6be174f27e32 CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f3927c-185c-4e47-a232-b161061abe71 CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5267c40b-0714-484d-8aef-cdddf5fa23fa CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa40909-9d6d-4492-946c-5e3319aa94d9 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d703b52a-6fd7-4c93-805b-3f53ff7219a2 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 777e7e55-c96c-4624-acc3-2517cdc1951f CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15a45300-f0b1-4b9d-b6e2-3ca3466eada0 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c3fd3c-ebc9-49b8-834f-e0d9372c8997 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9eb9f96-388a-49a8-ab12-63dceb3c94e6 CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e185b0-8713-4859-95b5-9141f70c3d2f CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7e9289-d823-49a8-9e73-501d5acdd71c CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2132370-d95f-4575-89f0-bc34777d1f16 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85fde91b-3103-424a-a1c6-ad402d1789af CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48f1352-5afe-4e84-8659-9587ae464220 CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d004852d-1d04-4cf6-8c45-e002d0c717af CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a22722-67cd-4613-8a83-c54416b2e358 CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afbbca5a-a8a4-4ed2-88e3-db26727976c8 CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd1e651-0201-49b7-9fe7-971c1c797158 CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5bb3832-8b07-4e05-adb7-c321c6ff35d1 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ad5696-c170-4468-82d1-0461e2aa42e5 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 211b7309-5524-4f4f-86cd-cefa6883abb3 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5709fa5f-973b-459c-b2a7-980b84c64b5c CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16ed5dd5-d822-42fa-9f3e-bd706e025187 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd92b88-b045-4a48-9ec0-19ba0abdf278 CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39bca70b-03d6-4473-992b-539a9dda146e CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cca468e-54cd-4073-9a2a-6826152dbc25 CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a076247e-5bea-4c49-805d-c51fd001aa99 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6d6a8c-acda-4ab1-8824-4c435399dd2c CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49b06e61-dda0-4202-ac31-748bb8b2a303 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac979209-2239-43f2-80b4-e136977c013c CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88c5a327-6c41-484b-aaf9-7cffdf90b128 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3835be-9238-4bb3-8469-1646a3dad729 CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa104134-e719-45d3-bc21-8587ec5c52a2 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d273d828-0c45-438c-91dc-31d9355d996a CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd122a8f-9fdb-4a5a-899c-6e8b2d6f0816 CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e693efba-017e-4c53-8578-b0a3b631d748 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b59656ca-7d66-49a0-846a-b2f446156314 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eacce05-22a3-498f-aaa3-728b9de9e2ab CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64f3a924-21be-4850-b6c4-7be070d74aae CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c5a758-fd69-44ea-8e83-711ef2d2f285 CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98fc9f44-147b-4edc-93fc-63ca64716614 CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08a516b-cb96-4f0f-9424-53306d416edb CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cbb6465-7836-4d36-8dc6-a54d20626165 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f912a35f-472e-49cb-a83e-1292c8b89e9c CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25fe52f0-99c9-4183-856f-4b8ff14af66e CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2a6498-9d5d-4ec0-a10f-f095c875e7ee CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a2e44ed-6a52-49ea-82c1-5b3824a51a08 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2433cea6-6bea-428a-b640-bcf99bfdb751 CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0588e072-072b-4e8f-bbd1-89768f2496e3 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9816798-f98a-4502-a879-52a73a18c6e7 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cef51086-aeb4-4f3b-886f-4b8d6aaebd30 CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0fe48c-cae4-4ec9-934f-fa7013f03458 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d19e564c-20a9-4dc2-93c6-20c7f00e8c81 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60909595-71a5-4da6-a4cf-a32db3cba094 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce7045e4-40f2-4f68-8ed4-e44d67559181 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9195f61-0650-40f0-ba1e-061c0e94a0b3 CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 580a0418-e212-49dc-8020-3e2329f4520d CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f859cf4-3465-4c17-be05-eb6b26aa4af7 CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f141cf6a-43c8-4d43-b6d3-44621ffcdb89 CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43247ab-9a12-4118-b0a6-c85f7c9fe9ae CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6e2c799-c8a1-488e-ad51-38648b754f54 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33f1fea-64be-4e6e-a04d-18d477315365 CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8d8ad8a-1fa5-48a4-9462-9fef1d5cb1a2 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5498a9f-cf4f-4131-9f8a-3e02eb1b84c1 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 940ed562-8e3e-4c8a-93d1-ac9e2e0f9879 CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4c9d41-a2e6-4efd-a06c-27c22194089f CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463416ad-f4ce-42d2-a8d9-d0fcf83c56fd CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c64e05d-9f75-4a60-8ed3-3b5f23040460 CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 000de8c8-2fbc-4d8b-a764-7bb1da8ef9af CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec83e88a-88ff-49fd-8902-b7f719a33f94 CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc5f1db-7f0f-4c81-9001-b1bd007c0dc7 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df884e2f-3e85-4555-94b0-9f006d3423d0 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91f4c6db-79fa-4713-954e-82fc73fa8e63 CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4582f26d-1895-488b-a6ce-f757a8f42e3a CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5617ef28-0962-42b9-9b03-e70450be1614 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adea10d6-7155-4415-ab5d-6fc0fd58b42f CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0800aa7c-95d7-400f-a467-ef0b6aeea876 CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71151852-4d3c-4825-9b6d-45d853f23a9f CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d0cb60a-fd18-4c02-b0b4-21360044902a CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4efd94-e6c9-4af6-944b-1428831c3402 CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 719a95cc-7bca-4499-8e66-d9cd1e112958 CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57f6210-1e9d-43d6-a9f3-ea47a82607de CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f24d872-4f9c-4b0e-8b98-63f814770c08 CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3588f24e-9eb6-4f4d-a58f-efd469ad5ba3 CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08740f35-e507-4929-bae8-46d2aa8bf69f CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10fbc86-75d2-4343-a3cc-e9abb282ee4d CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56e174a9-accb-4e1d-93a1-8706cb9ba879 CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8febda58-9919-4104-bfa1-3f3279fadca7 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 496ceb6c-dbcd-4ca2-957e-eebc7e88684e CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944a238d-5765-445b-be66-630106e98a9c CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f94eabd6-d54c-491f-9f61-24aefe270761 CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2556eb-c5f1-4dfd-8cc1-3d4f83f9ee38 CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c6efb40-f3ec-4cd7-88c6-eff96b43aedb CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7770babb-b2b6-482f-8a52-5d233a942604 CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b09b992d-6720-44dc-8dd0-8c3539a3403a CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743ab511-affa-4950-a5fc-0ceba67f7fcd CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08e20622-966a-4a2c-b9f9-7ef0acc1222b CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f848fbc4-358c-4131-b617-2126c5ce58ca CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d917a5bb-9a74-455a-b002-8016879acdaa CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f1cc0e-0884-4f1f-ae7f-32d441899c17 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcbd7fee-2f25-474b-bef1-a1016368915d CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d1081d-cf89-4cf6-9921-3268d411be75 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2bfa169-3b9c-4d2d-b973-8aba23efc2c6 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9fa8bd-4056-4e46-8aff-e8fdb52bfa5e CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 951f0d2f-b88a-4deb-a2e4-f72c80cc3e6f CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a85915-0d66-429a-b2c1-4ff37e65be9b CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f64e00e-88a2-43ae-868f-73d0f0081076 CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd176557-62d6-4584-bd2b-870d29c2819d CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35952bdb-a301-40e9-a7c5-cd1ec4f61a38 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b500029-7377-455d-a011-d0d0ef7ccb79 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13afc176-08e1-4618-830a-4d7506479760 CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc588541-bbec-4293-abaf-30e272b5eec0 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a4ff8b4-4cf0-438a-8e1b-b3646615242e CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1962dbde-d668-4d35-b7e3-6b3538d1a68a CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dadfaf11-fe03-4e8f-991b-1af59fb2d8cc CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f7414d-1b97-405a-8896-6623f085f125 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6566915f-c0e4-44e3-90a1-f6a4e7225af7 CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb32f9b-9631-46c0-bfde-e042ccca4e2d CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f30b2c5c-73dc-45ed-bb87-ac2719536776 CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bdd0a07-5774-44e4-8522-6b96489c7c79 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50d2a657-0654-484f-831b-749f8faf5173 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcf5799-cdc1-4a50-b1fe-bc67c2931165 CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78826cc4-7410-4e63-acbb-fefe2d876c1c CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b6aac8-bb92-4758-9073-ebd24f29460a CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f2c6185-ff38-4a39-a27a-9ff34b1d45ce CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59b66bd-2819-4a1f-abb7-4967b45f2384 CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c0e82c5-e1bc-4273-be4c-76b59f26937d CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495d03ff-8563-4683-9f05-af30091417f4 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2912a56b-6e32-4558-99bc-686fe5e40fd9 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7bc896-0fdf-48a0-a8ac-7f47a1edce1f CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 805bae75-e0a1-4c3f-8fc7-a64b4076ce80 CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5e510f-5fd7-400f-8789-cada0a1f4234 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e3696ec-c53c-45e1-8d42-81a2d9e09244 CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f428e34-d04a-4838-8295-8818731c9192 CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd493d5-b5fa-44a5-bb34-4c5708021c78 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb8fc37-f96b-45a0-9bd0-bc501ad0cb76 CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 361c7972-e41d-4fa8-91e5-49e231b01da0 CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7786a3c-f9ce-4e5f-b866-b94e65771940 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74897ea6-9348-4209-b51c-65233602be73 CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e247d878-6e02-431b-96a6-834fc8100414 CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14d93462-f59d-49d9-bd78-616507a7538e CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad12530f-d947-4d8e-9890-048c0894a30d CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54d7eb0c-00d6-42d8-a40e-63d49be06849 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9af9641-52ff-421a-b8cb-96db623e9038 CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd1d536e-daaa-42c2-aa21-4fcd6e818afb CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946c904f-e11f-48f0-86e4-75ca56cacb1f CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 895093e2-5406-44d5-8c36-19aaf9f6ee88 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad7b136-f648-473a-90ae-72e5d399b69c CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ea3aa28-5350-44cf-a817-ec9a073af310 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e60a39f-a012-4bc9-a68c-d36c332bc81e CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca6ca5f-25cd-4f38-833f-189a34436d2b CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9630ed8-ae83-4ecd-a78d-b0cf12df462a CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9217e245-01d7-4a64-b974-a09fd771e99a CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d104ef8c-9e69-4fca-bd41-2b45676f6837 CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1963650-a51e-4131-b966-39bfbb332763 CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb21896d-ba23-43d1-b52e-93131f1f1691 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21e7aa29-8e7a-4c13-a49b-45d731371626 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2577b0-634a-4c7a-bceb-6c50438ec76b CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0571a319-f3bd-4dd4-8227-5b19597a6a24 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06c6b4b-2080-4609-9285-06753b23cf73 CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65e8b3f-f2ca-4601-8d60-ac29c3c4be67 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba62437-0b84-4685-b70e-9b8151a75bdc CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28028ca8-05ed-487f-8785-9b59473c492b CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ca2df1-11d5-4999-85b6-4441837d7af9 CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7b8381d-246f-42c4-a253-d3a74a66b7ba CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e8f70c-77ab-4d2d-b01d-ba217fcea4e9 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 869318a4-e73d-4a21-b665-bf5affc4d597 CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4917ca78-8c0c-47b5-8348-42a8d85b6012 CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ee46556-ff6e-4223-9cba-e714ec5951d8 CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fb264b-3922-4a1f-b4e6-103cc4fe022c CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7cbcb54-2526-4ce9-b045-b479801b1de5 CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7975bf98-c5fc-49eb-95dc-189629a229e3 CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67404c27-6759-4465-96bc-0797fa834fa6 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15129891-d768-4393-b317-12da831707b6 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18292b11-e58b-4dad-8c1c-6eb7fed34fab CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe83477-29b0-4899-b94b-76dc972f5d85 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0454e6e3-699a-457c-9cd3-003ec0f3148c CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9d5b24-6ff0-4b12-858c-36fab3ad9d10 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9f6db01-0f05-4e58-8e1a-7377071e92a9 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09751f52-e7b9-4e55-8a6c-78af1f4414f3 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71c5aaa1-d64e-43a7-a236-d284392f7847 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d5f1c9-113b-44d2-820c-51489270648c CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de32d518-fe41-4394-82b1-6118a8b9144d CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d12bc9-9fb7-4173-98c6-87d49424cba9 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e798618-97ef-4d3c-8a8a-b86d5ca1d853 CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e78df6c-c5ce-49d7-ad3e-cd221d2e1fe4 CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5eb6ebc9-1448-4089-8d79-71be7d289d9e CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8854778b-5df6-447a-a756-135768dcecf8 CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e33376ba-d0c3-47a2-a991-99d502ae7665 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bfc175-ec48-4602-92da-46b993a3c3e7 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1de082f3-f6f2-4421-8e63-baf79d54648d CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eced79d-481b-493f-a43d-3c3284ca11b7 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af4c62ca-3d3e-4a8c-bdc8-f85862f8a1bc CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441a4bfe-62bd-4dd0-a59a-95f6db3c459d CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0688c958-dd1e-4ee4-a758-b8041e562ea8 CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ca6590-da99-4331-bc47-2fa680c3a498 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc6926d2-02ad-4f75-a93f-7c415106360f CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5c88b5-3527-43f6-b4f7-1800824b2362 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4efbc9cb-b6ad-4608-913f-c7426ac2091f CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ce2b51-5943-45cd-9a7a-f3ee33ee4a9d CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4dcb15a-d0f4-4964-81a1-b4bbd879d47b CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb51dd4c-1f29-4b85-b22e-cd1f43cc82be CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 468cc782-1e78-4fe6-b583-01968cbefc7b CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdba0fed-58dc-4473-9014-fd623435e8fc CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af102230-db57-4bff-854f-42cf33064951 CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758b061d-bb8e-426b-bce2-0b937c3bbb28 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd4fa926-98c9-435c-bc93-143b5317e5ad CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737d927e-993a-45bb-8545-f10a1e2d4046 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 574d4787-25f5-4154-857f-3dba09094cbf CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d491a09-77cf-47e0-9952-aa8a8c9dad9e CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56873ad7-815b-4b96-ba74-52cc54451d69 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f0b078-0dfc-4d70-ba30-6f17a6b36114 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99303af2-825b-4d26-a13c-570a9e5b8905 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a58bd6f-9fcd-40c1-b0b7-01b5b0f113e8 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4881b63-a97f-47fe-a590-8040d89e3d8a CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120485a1-9feb-4515-a274-791c8074b402 CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7513b338-fca6-4906-b211-4c8a5de1f1f6 CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76363fe0-630e-44b9-b8bf-c1b3d75c0db7 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da97dd08-277d-4e98-bfbd-08a92ad427be CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb955a6b-9dad-4889-b33b-94d343d93597 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76bcf7a4-e77f-413b-bb87-3195d65d0b53 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7ed52f-442b-4871-a244-4afb792b88af CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f3d4542-243e-400f-a3cf-f72c98c842a8 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76220a0-1902-4edd-afb7-47b4a8ad2bde CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc9425b-47a4-4f78-90db-9b667f9a2758 CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2330537-057a-4ccd-9d83-87624f3abcb0 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2a23906-6760-4e6a-8254-e7043e793d36 CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0dda676-f498-4eb8-88c3-4debab2a144d CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 363e48b7-b6f4-4cd2-a99e-e25c8424e0e2 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59af3ba3-99ea-4bc7-8884-d71fee9879d6 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9016c60b-b107-44d0-b681-2b8dfdddac46 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a5b0c8-3fb4-4384-b673-c51178fb57a3 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c291fddb-bdca-4a0a-bbc3-ddb8bcd7d822 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f62b700-1c79-4fbe-9172-c2acf8aa4e8d CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a25c1e16-9611-4c0e-86f4-2cac89956fb4 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ee8dd7-22ad-463c-b5fe-85173710d17c CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f293db2a-bc93-4435-81e4-5c96c3b165cd CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bd1f95-089d-4c5d-80af-db391e78b0fd CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7496a90e-53c9-4783-bcd2-c21d642679fb CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5c8728-5244-436d-a6fe-13e58fc6ab85 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dce475a2-193b-433c-988e-3f3046eb527b CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5855570e-5b27-4804-8570-f7fc95f98ee4 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a73bca4a-57c1-4baa-b33e-41497a25ea7b CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff33cd3c-3bec-4866-bb68-c98f1739ef33 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f712250-c417-49ce-93bf-1d93d4a35d36 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10f24ce-fa79-4e91-af1c-d6f8ed623ad7 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7275bae-adba-4b42-aff0-31e9a7e39a8d CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f361a7-e130-46eb-b76b-4da62abe1e09 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 987d641c-2698-4131-90d9-1230e8f388bf CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d3db652-dee1-4bfd-b209-cb6ed4546d0c CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02bec168-1fe8-4801-8190-3cdd269a4d46 CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2529f678-e218-40df-90a5-e5fa05e5cc1f CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18f32ea1-170b-4f48-b8d8-edbf38abbc51 CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e1359c-94ec-4522-bf02-36d629013851 CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37535448-303e-4bfe-9314-084287cfb9d3 CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828b4bff-5d58-411d-b73c-b7ab923642a9 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4de146ea-a454-4d4b-808d-7d54a8ff5008 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131b8472-5cff-44e6-9e01-1ded26cc187f CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8de49e4c-6972-407d-86f6-9e9d2d0ee2f8 CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5895fb56-5cc6-4e24-9c31-56569d38cf46 CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e77c8182-c899-40e6-a6c0-47390eac4ecf CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabb1a49-f4ae-4ec4-8f35-302d4a41d28b CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2ddde87-c292-4cff-a9cb-5a67be6bc64f CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c4d37e-f140-4cbc-b8b6-e79539f3933f CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0344d3bc-3373-4257-ae4f-99b49fdbf184 CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f01a98-5548-43b1-831a-12dee2577a4b CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5242dbc-28b6-4144-9507-6f0b51e63fbf CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa34c1f-0631-47e9-b2c9-122ada225974 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ec117e0-f34f-43f5-ae12-1443f66e292c CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b6037d-ff6b-4e30-aa9a-e141a3d61dec CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bca15b86-1533-48d1-a9a3-425bf22965d6 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68171de-d843-4bb8-acb4-3f7381819ea5 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21a457b8-ac73-4cd7-a4b9-d3f1b1665b64 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2a8838-4aa2-4fc0-bde4-25f262f7f341 CLINVAR:376019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf8a7217-31d5-4ab9-80b6-d1b9217b50ea CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5582d915-4aa6-4064-9680-91881ff82de0 CLINVAR:376020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3241664f-84ad-47ab-ad29-551199bbf972 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60603718-893a-4f95-ae0f-4ca0395869b8 CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 389050c3-9096-4290-a36f-4e1943832360 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27dc5ea7-46b5-496b-a3e1-fc5024c1b625 CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f72dc5-83ba-4d3b-a574-981ac8456e07 CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f45cc5e-f616-41a3-8461-47f76833de13 CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12708aad-015e-480a-a24d-15c5c95df88a CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9119157a-3aa8-44a4-bb45-cc92ea631305 CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f54570cb-1c59-4f80-944e-e0ae1854a69b CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96c1b90-adf4-4f58-9c31-1ea71ca757ed CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe641922-ba8d-4327-9fc7-73e09c62ecff CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b6aac3-5284-4766-b7f8-885a22cb888b CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1751518-48f3-4fb1-991e-a154eae2e067 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a677ee35-71c8-40d1-9ce9-b38d60353a95 CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71ed5e0d-b813-491c-b3b5-05650fd54731 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa19737-7ef2-4918-bf34-3da736a4f188 CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8455665-ecac-4599-972c-c60c3323778b CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52336f92-674e-4322-842a-6b1444ca7204 CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c5696e6-23fe-48c1-a74c-6ac88f7b7daf CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249781e9-cf72-469b-b385-c6ac36512a63 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21ef3c0e-0310-429f-be88-2c34e4fb2b85 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917b7713-de01-4d84-9280-4f88dffcb21a CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen def600c3-f56a-406d-9e8b-6595869ec9f1 CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 412849e5-7dec-4ba5-94e7-40cfdd62229a CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae36229d-8684-4713-92f9-b751cb4973d0 CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b5da74-5096-4200-a0bb-523d37765533 CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bfc520f-45c2-43e2-9bfa-5dc823b55af8 CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d153d3-8e38-47aa-94c8-e00a847d2e87 CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89a15497-58c9-46e8-b9d8-595188edcd69 CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4281a43a-fd35-4b30-97b1-00c1b5a2c07e CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee0ce02e-9067-490c-92a6-a3bb72382ef7 CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b090c10-63e3-4996-98f0-310d9b0e6d04 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acefa135-309c-404e-a537-f146fbb92d1c CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d160c153-17d2-49b2-b31c-b75e2d7b4792 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bdf26b4-275a-468a-bef2-2f59f591fef7 CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267ea3f2-5641-4a02-afa7-ba0fece02454 CLINVAR:953020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5224621c-ceca-4171-aff4-7c8814109b9d CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a5cf37-5ebf-447e-9874-bf76cdaa1756 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e640df3-f535-410c-b30b-f57998a5e711 CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7246f62-b50b-40af-aab2-4484b09dce7f CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c81c3b5-28a9-4022-96ab-812602ff9853 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e85e956-e547-4662-bdee-3ccc92e81a73 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b774c1f7-61c9-4f6b-ae16-01124d564d07 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36991d2b-540a-4496-ba03-5e873375b51f CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7d49df9-50e3-49bb-af3d-402560b0ac53 CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c483b51e-62e3-4d7c-974c-089f16bfff7c CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd7cf9f3-704b-4d41-ab02-a7bec2b646bc CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4474b6-1a3e-4d21-9240-1caaa76e80a2 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d414b38-a2b0-4f14-aaeb-23c9b7c742b2 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a711395-afa0-45c7-a2aa-0fc4bc8114e4 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac939bc0-bc69-4724-81ce-4b6c693f167d CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc03c6e-29aa-4cd2-9152-8fd53c9912f9 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1aa35616-3fbb-4304-b649-f4b40ffcad2e CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd02b495-dcc9-434f-a9cb-908025d384c0 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70dd0a61-dc3f-4ff1-96d0-0340b60c6be1 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84db8e3-078e-40c9-8a94-f0c5cbee3dd9 CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c15204f6-4a06-4d0e-9888-4d44d8fa562c CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82184801-40cc-43a7-bb3a-6f7a641a3e51 CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecb4a0f7-b9c7-4e54-9fc7-a38c1fe22dea CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aef8ab0-5e81-468e-a1d5-cc9e2fd9bd51 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2632da9-f1d7-4d94-b0b6-c62222a311de CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccdb1f3f-17fd-46e9-add5-6df6d07eb484 CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81a7a7d6-e0c2-4707-9556-b1375bdc8ade CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803ded3c-836a-4bee-be2c-372eae1a9df6 CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac55bc33-05ca-4ee0-b6e3-e8b53d7b6175 CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561094b9-5e29-4095-aff4-2606eb24366a CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94ec28ea-dae9-47cb-9a93-abb44b0201d3 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb701b94-cb60-4293-99f9-75ed06592dd5 CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbfd3dcb-6b61-4336-9275-5a82365c7961 CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc994039-35d3-49a0-a0de-ed3030c362bb CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b4e5827-ba06-42ef-8a08-919382b1bcae CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7e5891-8f96-4c49-a23d-8abb8f28c2d0 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33b4ca1d-d817-4cbe-b1ea-eeb33ca171b9 CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c3c419-e7b2-42f0-ab4f-f225135e4b24 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a00050c-3762-47bf-a741-4dd979ddbed1 CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c300b9c3-5e0c-42ec-9453-6479d7846497 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3efd6650-80fe-4509-93cf-7b75c6ee86d2 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdee0230-5ed6-4401-82e9-43454af50928 CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5197de59-5f97-4548-b43c-2b7b0a5c629b CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a80bb4e-8c70-4c07-a1b9-850cfb7cfc91 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3b19afa-2661-4b4e-9558-0cc7608ee40a CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81674914-de33-4b98-8f09-742e872c23f7 CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 907ab1c9-74c2-4ca3-acc6-4394eef69282 CLINVAR:953043 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e05462-564f-4443-80e2-3dd4fb4bed5c CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37eae636-a16e-4b30-a864-a5d11577a973 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba543e5-c60f-48cb-8fc7-672edd1d3be6 CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cbd5405-c5c2-4cf1-8795-0eb884309605 CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3130181-6ae8-45bf-b8f0-703084209f1e CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63f168a8-0141-4687-8aa2-2ce2a38c6bc4 CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e505cf-1f55-4a39-9eda-01b2d3993de2 CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3c1a921-629d-4bc5-867c-69db75b1fe77 CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5c0b24-53cc-476f-870d-a0531a016553 CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 078edaf8-0020-4897-9b08-6ac8ca251259 CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb87e2d2-ac79-470d-b240-fd72cac47723 CLINVAR:953027 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58c76409-b9aa-41ef-86e8-0fad4196a0d8 CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 749ab829-a371-4e81-9b53-0e68dc37dd21 CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f0dbfa1-6bc6-49ab-88b8-1ff140a5bab4 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e3b6c3-798b-49b5-b61e-28e63978972f CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e481187-7c5e-441a-b33d-dfc62c5fe5f3 CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcb94d0-b1a5-43be-a87f-c6d5d22098fc CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 843d8f80-1700-47f1-a013-f809a05c11f5 CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b37150-ace0-47f3-9b8a-d6f453fa8e3b CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69a6994b-e518-4ae7-81a5-6266501d9599 CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92dda40-dfab-4f61-81f2-4c1028b6efa7 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0cc95e4-b8be-4590-9fe9-6f86f34d00bf CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51f9239-4f32-4620-870d-26d2e2be207e CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b40b172-b8ce-4c20-bd83-d0da20c671ea CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545ab4e7-4b4e-4fdc-89c8-1fb16a9df210 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6c65cfb-1b03-4598-8d56-e9787cbb70f8 CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c226a659-bfa1-4a07-9bc5-02ecd0993c72 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 645de006-1039-439e-a190-c556b0cb506f CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b58df4-d6cf-4aba-8343-3389bea44914 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1271eeac-47a5-412b-b25b-60779d688cca CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61527a8-dfba-42c6-9725-5038e3594a68 CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5397eec-a39f-40df-b146-523a1c4b8f90 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecffadcd-26f9-4bc0-be6d-bad71e1561f6 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b088f51-ab52-43ab-bed3-465e5ed3ac97 CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d33a4a2-c97d-460b-8cf2-917613af2ade CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 928ba9f4-01bc-4956-8a71-300ac09814d3 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5391852-7eca-4dd6-9e27-340cd45fd7ab CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a671715-2aaa-4d50-808a-038771ba094d CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d247c42-b346-4973-87ca-fb50cf3b1ca2 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbca7f2e-6f2a-401e-a493-eb97be8584df CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec50f62-8b38-45da-b976-97a1d5f83aad CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2133a077-f66a-402a-a4b6-2096aca69f3a CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91f7ec7-6b0d-4878-a0b3-a95ae47133da CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d865b54a-511b-433b-b9b9-606dbcf5fef8 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c20266b-ce75-4941-b244-e291861ccc4a CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5e5d19b-3cec-44cd-970e-0b0f6f9157bb CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479f446c-05bf-4042-a965-291617603106 CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1aa1980-69b6-4943-b238-fc1b9409b8c6 CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422dfcf6-4c34-48ac-8703-d46be7e1a817 CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09088690-9154-4fbd-ace0-b1767d2eebe1 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cad15c1-0280-4196-bab4-8199bf209f0e CAID:CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a921328b-c743-44c0-bca1-cdbe32235f44 CAID:CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416f1fc3-057d-4f23-87a2-1b4fa5a2fae1 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71593ddb-b1a7-4ad6-9ce1-dd4db8e21f06 CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1384f02-9505-4ddb-9c64-d239981d5e7f CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c26e3972-6408-4c46-942e-dbacf46c7927 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7d2dbb-7c15-4702-ac1d-ecc58369e44c CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82c2ff73-c363-41b7-84ed-3a145ae04405 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22058793-3ff0-4427-ba8f-7ba49b91b339 CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f92af43-efe2-4100-8ea8-bcb872ba4be5 CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd48ff2-a407-4bac-bc3d-179454d28290 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e104753a-9f75-4b22-b691-02ccfa84b845 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07805ba7-4df9-4bda-97be-b3ce85ef2c99 CLINVAR:953029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7620346-e221-4400-bfe3-7af819f53ceb CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6b4d1e-9009-47e7-bd4a-b11512c8f275 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90500883-6953-4813-a6a3-6f04d2d26032 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e14f96-7226-4369-86ab-26f586902398 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 225a84cd-b4b5-429d-9cca-d0e19fd676a2 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e759f264-c60a-4420-ba65-ab92ea4c5ca9 CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6508113b-a28d-48d0-8a47-04c623eff1ee CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d2a018-1cba-42ca-9431-ae612d5eccff CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abf1f955-919a-4de5-90c9-3f5f97f5adab CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04c4e74-5135-409c-88f8-310796f318ab CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40685cc9-faf6-4157-91c7-5cf1fe442600 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98af38a5-18b5-4356-a981-ee92055421a3 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 241e8595-b49e-4e7b-84b4-cd2c623814f7 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68b16ab-5a9b-47ff-badb-da4accad3d80 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 699d6112-16cb-4a7a-a69a-3f15d5089c39 CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad4a40b-b682-4f42-a386-5584ab08bf10 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88334af9-6680-4b5d-aeb9-c8610e4ae916 CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3832c57b-5893-4179-90ed-a42759620c9d CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae24c7a7-801f-483d-9200-70c594385d59 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cddcac89-cb9d-4497-b571-413c60cf56da CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47b25661-167d-4114-ab23-e24a0165396a CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e8ecd7-4b0c-4fc3-8248-ff8b8102146e CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76057cc4-cc34-4e78-9451-6bbfd0efe8f1 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34e7644-6f42-4f69-a171-9374a10d7d9b CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c283c781-4880-477e-af7d-3f6263a0a1f2 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4de035-0e2f-46e0-b6b5-65fdf0188784 CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9572c0e8-635c-4fd6-a8a7-fd07bc71c9fb CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94bd9ca4-c7c2-4d90-849b-99fee99797e0 CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92a4d40f-782a-4461-a340-e9265e011399 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07631b8c-5e4b-4702-86e8-71ddd4e094dc CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6169b027-8e03-4f76-b0a9-998cd8503092 CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53c48fa-7c1b-4a88-b8d4-03b1a8fbf928 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc3371c1-f69f-43e4-84ca-5d8153947d67 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb90439-134f-4885-8cf3-7c9c634b1e44 CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c68adc03-1e9c-4faf-bd38-a76066468b0b CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c3fa72-7897-41c6-b912-f05082a30698 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d90c91ab-6cfe-4b15-81e0-e34f4d652fea CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ece359d-8a3e-41dc-96dd-82eccbd84af4 CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25af2574-ced5-4332-b8ea-b0c18d67dd92 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d78e40-8489-47f0-9710-4c7602c81193 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 362c39f8-df5a-4e17-a647-4c5355489071 CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8bd6ab-e4e1-4d47-a28a-a5cd6a456b5a CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 944a2056-e162-4c6a-81e1-209f389e69fa CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1197e1f-1302-4b0a-b6f7-f97402ffb456 CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 763520a2-d899-4219-b1c6-f1f8ca8eded6 CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d081dd60-9f94-40f0-87a7-40aaf3b94dfe CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6b2332e-0331-40b1-bea6-80338164f039 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf00a56-2b88-468a-b211-c30909620259 CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d15d44f9-64ae-4963-9867-cbf8749e6f5d CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b25a0b8-05af-4597-be66-8af18284a368 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fe67e1f-5fea-4909-a6b4-a68779db96cb CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45a19c4-bfe6-49b6-9150-c41037e51f0b CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9610a4b9-bd24-4b31-8052-14fe6f00ef43 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4dd667b-6516-4d34-98d6-f913dfd0d333 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc83a162-648d-4ae4-83e2-3804c80eb7ec CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf6febb-9bc6-4c1a-a2ce-877d9b50f02e CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e71cfe7-c945-4a12-a369-5f5f2c4c8591 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d872c0-946b-46e4-84a2-dd96a007e7e8 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9060804e-a10d-4fbf-8da9-21d55a94031a CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345f3447-5462-4b83-807b-fac734a6f033 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 022b466b-c71f-4e99-b6da-72a159b6f2f1 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdc81ed-4300-40b9-ae4b-d8c80f17949f CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1104a4f-7a3e-4aec-b2ec-d88932826232 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6787b1-540c-4f74-bfb5-2fc59ff3f69c CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc42cd20-40f5-49a5-990e-af000119bc72 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41dddb2-32a6-49d8-a7a2-62e7276dc084 CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e970e4c-182d-4f0d-9071-a8f1552ed5cc CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4a8a99-2ded-4f69-8149-58ccfc4d7451 CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 259bf765-a14e-4620-bdd9-11e53279e617 CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051b6fc3-cea1-469f-b431-db261754ad41 CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2827dff5-ecf6-443f-a93b-0b90bfce3088 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33ebdbe-08c3-4cbe-b970-c0dbfa1bd121 CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9196c6-8342-4cff-b04c-ad536fc264dc CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6935a9-16ba-4067-bf33-c6b01d2510a8 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34855a0b-ca16-4e52-9d97-4a535febff99 CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2c21b7-f787-4759-b943-07b3a731479c CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8133223-a662-4c6d-931f-2cca17da9d24 CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100914d9-8462-4ef1-8b0f-a1145916e7eb CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efa1d16d-888d-442c-b168-c18f6fb43992 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb066d4f-c3e7-47db-a836-d683f518fd57 CLINVAR:953021 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68bbd3c8-8ce3-4c35-96ff-3caeac04ac26 CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ad2a32-b828-4a00-8127-5a1c033844f7 CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0446f13-2f8a-4bf6-ace2-9fe731760655 CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad08bc89-cfa0-45d9-958e-bd5e8364d757 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e5b15e8-6d63-427a-a945-e6c34b98395a CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a862edae-22e7-4155-92f4-8a1c3caff10e CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4ffd26d-7bab-4d08-a4a1-4cac756b57cd CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0433d90d-a6d8-4996-93b5-8ce3081258f4 CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71f538fe-595e-4f17-873d-9edf78bea504 CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a940ba-5276-4cd1-a0ce-b96e402361db CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c55909d9-7571-4c99-918f-4683b9c7dbe8 CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f478ead-f56d-42f0-8d99-a2021e3159c6 CLINVAR:996183 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eeec1e6-ad25-4d08-af73-3daf208b8d53 CLINVAR:996183 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e374afe2-5f84-4711-9ace-10e0144de515 CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7cb6c78-95dd-42ae-97db-86bf4290085f CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0fc044-64ec-47de-a685-e694d2dbdc8f CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fc946f4-9772-406c-8fb1-96b77787876b CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8634d3-c0e0-4d4b-ba52-ead237517732 CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c10db7c-fd3d-4d1e-b3d8-992b772aa8fc CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2daee9fc-13be-4f9f-8ca3-95e2fc888cb3 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5db2477-a0df-41ad-9fe8-aa26442bc3b5 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8004ccb0-4372-40fb-8390-aea935f0c051 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fe029af-78f4-4374-bcf2-128ab2011dea CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bfd436-8e00-4e7d-a6fd-ed1beb06d588 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1df3940a-acb5-452f-aff9-edfc3b820c22 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358f486e-fe21-4b00-9b70-f48484e3d03b CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 017d1bea-8994-4c6d-9fe1-5f2e252757ba CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61581d8e-a9f7-489b-a036-ee0987fdaea8 CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e4aceda-c49b-4263-8438-8436616a3503 CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9f52e1-adcc-404a-9dc5-6ec33734d35b CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3d4fca6-ad96-4b1a-824f-a9f20b2526b9 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d82ba79-de51-4597-b83f-384cdd012499 CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37756963-48e6-4c79-9d63-800ca8e5bba7 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98b726e-141a-4997-a7d9-1f60ba93da38 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f576dfd-2bc2-412c-b446-82935bf74e96 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f401d973-bff1-4fb8-82a1-f3fb45e49387 CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89d40ea9-b3c7-44e0-9db0-c51b69b17bb9 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db6fd65-ca17-4969-be07-9ae422c9f2b7 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c79a760-5c38-467f-b3f0-bddfd8a9d444 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d4ec17-dc30-446e-8749-82ee196ca1ff CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d5c66cd-3719-41fc-a6ac-ebb5e021f076 CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8905f0c-5ed0-4257-af4f-bef7231753d8 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd317f3b-7466-4b44-ac3e-4cb5ac7e8d37 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed95956-8200-4f6c-9960-35fecf6545b3 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b9d88f3-aaa0-45da-b076-84bae4bce675 CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f13f15-4765-43eb-816f-1d98ec4da296 CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47d896a1-52fd-4f96-bbd9-a67765891f89 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c022ad-1fd3-423b-beed-eab5bc6367d6 CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b48009d9-2a29-4697-ada9-cfba6bc5246b CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd2409b-909e-4d8e-80e1-1c20700e2b6f CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8c10ead-fb89-41be-9ca8-b22e25b9654f CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680f99e8-a67d-4195-9446-92c6618671f3 CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3311e161-c938-4ca4-ae7a-7644beac0dfa CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901ea9a6-c739-4e61-8765-40364bf6d5e3 CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f786f05e-1ed7-48ca-a0bd-6c190e9d0e3a CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbe2c31-5907-4ed4-86ab-5aeb157233bc CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b186fc8-3789-4426-b2fa-b128906380af CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2806cc9f-8296-4f63-9a79-66a1840edb31 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 670c94f3-a4bf-4431-a7d1-e9a32ed0c54e CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1701b37-dab6-47b5-8cf2-148552213680 CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e011e121-40a5-4543-b1c0-2fe7549722fd CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d699ce0-b75b-427c-a4ce-f54603ff9449 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2a38f8f-539a-4af7-a98f-d8862cee7295 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845dcc4a-3acc-48e9-aaea-2b14340e6547 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 789dae94-a150-4c01-87bc-b9da1cf5ae65 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 931b23b2-094d-467b-96b0-bae505257720 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36d09f94-5e22-4270-b565-effce9f6c12c CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7857acc7-e0c8-410e-9931-e33df9511ceb CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9921168e-52c6-41c0-90e9-75d7ca43f9d8 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28abf9fc-4534-496a-bdfd-d525f98d2081 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e75d9fc-c903-41f0-98be-2698e3d6172a CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d23725-9f95-441a-ae90-78133a4f1644 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42ea3234-5b90-4da4-acdd-724359ad0f09 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aeb23ee-757f-43a8-80fd-4d003b973cec CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 733f697d-b87c-4a8f-ae5a-1a0ab98949f6 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30906fc2-17e0-4cd5-9d26-675019eb623b CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fddb7073-4080-4941-8a39-91a07fffecc4 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f55bcd-9bd0-43b5-a4e8-c488937a0b78 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a838aad8-59eb-47db-a578-a0f7ba952a9b CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 844a384c-146c-4d96-bd92-27e8c8746d39 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7353c1e-c3e5-4717-8365-1b45ba0fd4a2 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde77ad6-b788-47d0-9e3d-d4ec6ae88388 CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2035ea34-438c-4db4-a379-15db9cde687d CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b331a5-5014-4a2c-9c95-646fa8267b35 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac9564ef-5540-4a62-9b38-e071302fd30e CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398e1521-e2e3-4428-849b-b91e8628935c CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f9917bd-8e0e-4b59-8042-74e14cffc1a1 CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89fe94c-0f63-4636-8b93-e4d7b03d710f CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec69a72c-fb98-45e7-80d1-da59c78f479c CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efac7631-4b53-4cdd-8a89-a3f7c1d3f3a7 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c576f922-10bf-4905-a345-24529f38ee4f CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fff74e6-ee9a-40d8-bedc-b68b4a540afa CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80ebc079-abff-481a-8560-e5c19ed5f8e5 CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeffb0bf-91c1-4379-b138-d200835193b6 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9882440-41a9-4176-bb7d-395d961a9f30 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f155cb4-e35f-497e-bbed-d99068174473 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 568a0fde-c6e9-414d-ba45-f298d79e23ad CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a6005c-4a92-467b-bc10-69126a43e64d CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c9bf9eb-9c8d-4d52-a6f8-bb5b5b618629 CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e515e2b1-46b4-49e4-a199-efa673fbe36d CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1839ec5-4c10-4be9-8091-9cc2d058d2d4 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8970e67f-6a4c-40d6-bc1c-3a87517cfd4f CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2adc8306-1f92-444d-ac4c-63313a8dd9d2 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e71bb0d-7c00-40aa-897d-17aeac47a412 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3c5ca45-a778-47b4-9620-3073521171a5 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c1bf16-9d17-4085-bd36-d151ac8495d9 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d04df58-d316-4427-8dd3-2d15a5c6cb40 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eefd4ad1-97b3-401e-877f-7f56b2468c33 CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee9b8680-ace5-4aad-af71-d9ab6a6c2fa3 CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3409bf-3071-4fcb-a3a8-ba29ee22e284 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56bf9781-3666-461a-a22c-2428945e1868 CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a39f00f-69a7-46e8-974a-cc087446a9d9 CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f50a51be-012a-4c5b-82c9-2e5821c17814 CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260a011a-a551-40cf-bcc4-78e6959ccc44 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cacf1c6f-45c2-43db-97d0-e13bb5b2b509 CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e16d5f56-4334-4e1a-bfa4-04723a44d311 CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82dbec24-8a2b-4049-a42e-02e0be8d582c CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629fcd04-9cf4-4874-b70b-c4ae20f0af98 CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd571d0-8e2c-40a4-bbb9-9f3646d44dc1 CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d838765-4f04-4c7c-a4a2-99f02e00608e CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec7f1db-00bf-4ba2-b232-fdb1ed35e492 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb9e2e7-5b30-43f2-8b7b-6d4f2d9fe578 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3865f19-a586-4604-ad95-958cb3583c97 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cda217-c904-4d02-901b-7b5f3a6d20f6 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8851fb6a-6d51-43ac-b568-1a3f01814ac5 CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba89a25-dca1-4903-96a8-1e28b6b6f7ff CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c595a956-433b-41a7-aece-8d64e4102661 CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6875d65-d8ac-47d0-baa0-07c034b58762 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a65a2175-719b-49d4-a9ed-82862477a466 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e521ea42-46a8-45c6-9599-ce1ce5931171 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e49808ba-795e-41a1-be63-961d91bb8622 CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a68f0fe-5c2a-4c2d-b164-27032dcd02a7 CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5cffd93-18a1-4f59-90ac-52e6dc35e85c CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de757eb3-31b2-4a86-8ec8-d57ddf3cd675 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68b70de2-b8bc-4ee3-83ae-c2b57e022f4d CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd241b1-bd46-40b8-9926-c0761496876f CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07f52c61-49c3-4acb-974c-1631cb0c0d99 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d51ab7-2436-4500-8cb2-d78fe77dfc19 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0329954b-444c-433f-854d-fafd8a14a010 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9102533e-a1da-42b0-b19a-2f1f7390799d CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 071b7c6d-654e-426e-a593-40ef7f15ce0f CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47f2974-bc7d-4ec6-8e56-a19931597c04 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d294daf2-3e1e-4f0a-940c-03d1d7251761 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ab0cb6-af51-402a-bf06-395866794ef5 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6afe7510-b2d1-4a0b-808e-32d9333f02a6 CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e865203-782c-4dbd-95e7-296fd4ca471d CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66308fd0-a876-4d1a-9c43-9b779ba5ba51 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1237f6ca-952a-4b06-a79e-9afd3e0c88ff CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b1542a-39f2-4001-b9a6-cf4a2b2e0ff8 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10486c26-08ae-45f5-b97f-27533c40de47 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e008970-f892-476a-bfce-2d5a9317f84a CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fdfe16-244e-4e93-b00b-c4468f2f04ad CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 331649c8-8c4a-454e-8e9c-d4a513590e99 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f872981-92e0-4b96-8c7b-b621a0e3c2b5 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0f35b74-b915-45d9-82aa-71e599edf171 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b563df32-0f06-405c-b4b8-c53aa939a5b4 CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d9a2a2c-6582-4684-afd5-0108147d46ec CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4076df2f-7a4b-49eb-be7c-5df78a5c2752 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78dc20de-b075-45c7-8057-79febf71f601 CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a02018-d2a4-48a6-9977-92ae24726d25 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1a9fd8d-b8a2-40b9-921a-c74e31c41fa5 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe516458-b417-4d65-9c76-44c2331dd961 CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4998923f-9623-4249-99d0-bb870a149952 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dfa5b0-2985-49d9-b6dd-bc6cdd313bf0 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dea0e6e-3f2e-4764-84b0-05dec3ce8c0e CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0baf63-0f8b-44bc-863a-ac93b51a68c8 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 596118b4-36ba-42b0-9517-3c99eac74f7f CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d58728d-35ca-459a-ba88-1b3a2a2e269a CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7770934-5423-4db5-aeae-b5528652782c CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d5256c-417b-450b-ae7b-870c1b5ad091 CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae04c21f-1e6e-4ec6-9956-50a33683a589 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34beb06f-c9f1-45e1-98b0-b03a0a360927 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63ff2a55-c6bf-406a-a320-a4028d425cb1 CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ee2a4b-d8bc-40f3-9a14-b98a953e6709 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42a4a66b-c85e-452f-8a47-bf4e4fd273ee CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3510e40b-9f91-42ff-9845-0d68d066d157 CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58f1f2f-7963-416f-a2ca-b5eaa809e059 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40803728-04ab-4498-b825-c8f349a7df43 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88ad022e-7b23-4a4e-80ca-50eb2ca738e5 CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 452d4cbf-754f-4d71-a9ec-b67cfdaa24c2 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33243c2a-27d7-4698-b5dc-a3dcf71f9cf6 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e237438a-0d24-4a58-a1ce-679c1856ebe2 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62808e05-f093-4e24-92df-705ff2a9ab10 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0912d84-9951-438d-868b-b65d47651ea5 CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5aaf708-b723-446a-a459-c478f631b469 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e4b07f-2ca3-4988-92d9-f1f7bf08104b CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 259ec36c-8f36-4c6b-89e7-9cf93db39ec1 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ccf9a4-4926-49d5-a677-2f2c2dd646f1 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a135e34-de77-4208-ae4b-fe1f657aec22 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bc2a8c-2a64-4551-86e2-03ca996f4352 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3543dc6-1906-4f82-a542-9e7799cf67e3 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e3ba40-51f6-48a0-9cf8-46c28ac0362e CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6f0e320-061d-42d3-a89c-b115d5b83af0 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc3e9d5-4d1d-4cbe-a2aa-372cdf2eab49 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdcec90d-21c0-46b1-9f23-f492983de195 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35402e6b-63ba-408e-8ffb-2ac550057973 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3198934e-3930-472a-92e0-449ce5c32b44 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb828c4-e401-4c6d-9f2a-f760fa94a353 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4333af39-1f58-4014-b793-bd97b1fe3fbd CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6b0101-2627-4103-91ca-5c580d67531e CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6aacfb79-b663-4e3d-967a-417f380d6170 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c0ebbe-001d-4929-bffd-de581456e22b CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 950c26fe-db6f-472e-a71b-736c6741acb1 CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7209fc3b-0634-4ca9-9add-983416489eec CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b80f2cf-5204-4238-b68e-386d28f1e9b8 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b746292a-173c-4d39-8c22-51f9bb4a4cee CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f23eb55-48d3-4f63-b050-4394378b09e1 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f353b6-43fd-485d-848f-76f7ab031cb3 CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3291feb5-8fde-4225-8f41-454d3da323bd CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd797e6-9f50-4b9e-8d7b-639140e8cc50 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a333f982-e4d9-46d6-b9b7-f8c2455dd39a CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3110d1-521e-4b78-add8-4dff153cb77f CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d50acdbf-85fd-4ed1-a93c-eac701034a8c CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b419bd06-fa01-40af-ba6d-c6eb30b8dab4 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 364c26b2-d42c-40b4-a5d7-237cf90dd38a CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6ad326-d922-478a-8194-8ef6eb5aff63 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd35d792-ce76-45cd-b0ea-73b568dd86b4 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5b1669-40c4-443c-b501-ace3cd940de7 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 861369dd-1bad-44a5-a9b8-865745452a3b CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27857cba-b862-4433-8afb-37ad96bb3630 CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba3a7c64-641b-411f-8c27-7ba30124a3cd CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd5d1e5-f2ce-4222-9672-4b77721bf093 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d010e08-d333-4af8-8f5f-ebaeb0e48667 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aaffc73-097d-4a45-a4f4-c1de26689579 CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9241f173-5da4-4efa-80b2-c35db182763d CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d32d43-4744-4e51-a324-88efc6efab2b CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccc777d6-b1f1-4837-a37b-e4598d31d6cd CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0937536-3fa0-475c-9913-dd0939cbe295 CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38bcaf53-d2ef-4c53-bf29-2b78bd356886 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defc952e-33fc-4488-a3cd-e6ee1c69c7d2 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9a95bc4-63ae-4682-9287-b355589bcc8f CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237325cd-0bb5-44f3-bd0b-290742f0ef0a CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e41239c0-e2c2-4b4f-b781-1b67013004a8 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b8d864-69f9-4014-a4b4-acb871a7d59e CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c76f68f3-b722-4335-be8c-e70a0875c7f0 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1190366d-d28e-4100-a0d9-f3d7d8b6a357 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 482a189e-1c3f-48c3-b8e6-9684d38ccf68 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eaa81c2-1787-45b3-9928-992243743ff4 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de29e1ab-0c8e-4492-8131-94bf29569814 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11af88c4-3d0b-493d-978b-036b73e47d85 CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4896c01d-4caf-4081-ab3a-8ff2ab179e14 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d51a58-0cd3-4eb1-aa33-56e1310aead7 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f830e5c-40b5-4aac-a0ea-cc2abea48567 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b92bba0-5749-4c86-9b1a-4e9583a35359 CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad86a782-4cfc-4180-a6bd-002a36b01f3d CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a17b61e-d6fa-4e0e-ad9f-d05764dc546d CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b590b66-c4fe-4013-aadb-12496f5ec521 CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7061f63-bd15-49ae-a48c-f0987d854b62 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df7ed45e-d49f-48b5-a87e-49f19453d522 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a5e9c0-346c-41cf-95f0-8344d779908a CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52962ed5-e75a-49c8-aa9e-90b99a000f44 CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1641a5-1a7e-42a2-b9e3-69489916e568 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1b92455-705c-43e8-8717-375309366121 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23741cb7-d2c7-4ff6-822c-3d4c825924f5 CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b28fa06b-10e7-435a-911b-da89ee40a570 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0a891c-d63c-4f83-a22b-2a3b0595cd74 CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 259f2804-e199-4a91-af5e-77a618f773de CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db35f33-e1aa-473f-ae04-b20d7a722ff1 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6a65c8c-02db-4811-a90b-cc0963235884 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134bf564-4d31-4f56-8f4a-c5a47a3e01c2 CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 200c7d10-2ff7-4c8b-8d7f-4114cf937921 CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b908b53f-1955-4e1b-a983-cdff183e9167 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e473c2c4-f2ed-4015-a727-1c991d29de84 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77d8ff7-afd7-4483-9ff4-a2fd397325e0 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ba5ce2b-6152-4191-89f3-abc2fff1c9ac CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254410ac-5575-45d0-8c3b-c9776f12a519 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2f5162f-85f8-4c42-a66d-f38911a49564 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2daf6981-f76b-4314-9abd-bec7ab6fcb0c CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf08e440-ce7c-4b0c-b889-4ed976f07b9d CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561d1071-71c1-4e12-84c7-005aea2e0178 CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9615ad96-70a5-4b6e-b983-0f8e7617d9b4 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc593f1-d5c1-4238-a1e0-297c1e4d78ed CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14538a9b-172e-4ce6-9496-d99015535d32 CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af91f27-cb96-4bcd-a9dc-f7196c77f846 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa1af229-3262-4f76-8f5b-75cea8b750fa CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d0335b-467a-4d6f-b053-832ec58b3733 CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0480696a-5d58-4b1c-b7c2-8dec2630adbe CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def52782-e018-4647-8822-c695cc9de65f CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2e1f2ec-836b-414f-b480-c8586fe3a77f CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21a53c3-727f-4532-8260-e339bd264490 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab33d5a9-324a-413b-90bd-f4127b5a2d48 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645b4576-02bc-466a-b6b0-a58a6a9279a5 CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c18f71df-38ea-4c4a-b202-0db3ae1c4db7 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792439d3-b41f-4c5c-8cef-57ffffe881ff CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43045c41-cf80-48d6-a698-ac7d8f9708c4 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ece28d3-659e-401e-8281-ff4e59c170ee CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f531b77a-5fef-4fa9-8a11-d969f44f9256 CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e6658c-7e8a-4e64-8b5a-6e08dab15194 CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50893f99-1827-4f97-8618-4a0ab8069bc2 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb6186ba-07b6-49b6-a2af-3c2dbd666920 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ce480be-4725-4a26-bba6-3040cc709e8e CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7f98dc-bfd4-4f5e-aea8-071655f41206 CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac197176-521e-43a0-951f-110413122854 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c376ef63-600f-4b72-9b24-13a5b9f347ac CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f30448cb-d390-42a8-9d8d-c20dcddf9999 CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6889016-896b-46cc-82dd-614cafe58e50 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edea67e4-e8ed-4fd6-8493-ce8544dda051 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0853b19-420c-455b-ba6c-7ff7e2ddc9dd CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acb687f0-8105-4598-ad3b-56d392da7e63 CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1382efb-1514-4f48-9879-045b2296886d CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bc4ede7-2fad-4f9d-9ce1-844a593f40e7 CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dc4491-8751-4211-a8fe-38d38d02056c CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b936ea1-6a58-4741-b140-a2d941fae2ab CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3d94b6-2c90-460d-84da-72f08108415e CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbf9da78-7310-4f51-a975-97abe60c221f CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38234131-23b3-4a8c-8b61-d487225e9b95 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc84d5d1-d84e-41ed-bc2e-d57f55edb79e CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bd37f4-1ca7-4083-a402-4c8386e69229 CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05e4dfa4-f6f2-4261-a457-e3ec8e4414c1 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a3b453-60aa-443f-a8dc-45c9e4baca76 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f6031ae-b024-463c-8f2b-d774eb70584d CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0641c9d6-5faa-4aba-927d-5b6be88c6a59 CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8330f35b-c7b0-42f6-a272-2a9b52b40840 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962be0ef-ef49-45e8-a7b3-4745378ed3e2 CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00e6a5b8-8d0f-4553-9eb3-e61ef5a48360 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab9d329-46e0-470b-9616-9a766d0a4e6b CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54aa5ffc-9e3c-4df0-9cf0-499d4175aac6 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5504df-5eb9-4583-bb9c-0e804c2540be CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f05b3527-f6d3-4d86-a8e0-2113a5dc3ed8 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04146929-7e4c-474a-a3cd-d6bd35457b68 CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70b0fc4e-477b-453d-80df-8163dbaecfdd CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6529b2-030a-4b4b-bec8-0f655401e6f8 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88776364-9746-44c9-b987-b355b8ff2bf6 CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5440ad00-9c8b-42dd-8fea-7c943ecac58b CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a1d3620-2c3c-4b1c-b807-de58167eef23 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46565795-555c-431b-b2fe-e79417789d73 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beb51a01-ba8f-47f8-834c-cfcce105891c CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c68d9f-52df-4e20-9f10-d40c9437c414 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67443183-006a-439c-ae89-c0cd66205ca4 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07190f59-fb8a-465d-a211-98601c56b84a CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc1302df-91c6-48ef-94a7-0596028feb9e CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b19fc1-bc16-41c3-8065-2aae5e30450d CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2864e861-52d0-45e7-bf86-3c6137ae59c2 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a6d17a9-1f1c-473f-9074-6c14215fb683 CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4947b89-e988-4a88-9e18-1465ef692dd8 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32988aeb-6e13-4450-bdc5-23a30ad84bd4 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ca0fe72-62d4-4640-81a7-c4c03e707585 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8362146d-7127-4e50-8d6b-0c81c73994a8 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa347372-9f6d-4e21-bb7e-1adc4e3669a5 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e294f5-a029-4032-9d70-59591c45e5c7 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aab679c7-bb08-4460-bf5a-5194002dc514 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f691da3-9fa9-4697-bdfa-c59d73140665 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be55e83b-f45b-4170-a745-d54d5baffa22 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c3eab7-68b5-4c78-a66d-f4b0208681b4 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0b920da-08fa-4250-b9a0-be310eb8be48 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acffa068-4659-41ab-8255-d3cab7ccea60 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 263428db-ddd2-422e-8e56-bb8ab56cdd31 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11afc825-15ba-41cc-91cd-4f36b055e4e0 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf9d3349-9fdd-41ac-9a7e-2e449009e98b CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c9d16b-002c-44a5-a598-8dd87b464b58 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1abfee56-d1d2-4009-864a-e0c9dfba2334 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5985ce21-97ae-49f2-a935-ee122ca2d960 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 665299d5-cce9-490a-ac52-637701c4ec7e CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9312dae-39ee-483b-b68b-a11afeac39aa CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2df86a1e-46d2-4975-ad1f-151ee272279b CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bc3366-8eb7-4603-bd33-b9ffee5eef7a CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81290544-a153-4191-9636-4a86e9dc9a25 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7377d7-de26-4f9e-a917-1e31174401f3 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef33e0c0-c51c-42dc-b16a-fcc0bdcbb3f8 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da7cf15-f3c7-43b9-8978-f5686b6538a9 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e71420-dce3-4dca-9abe-9cd2837d7bb7 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d84220-8b2b-4c20-82de-a9cce4b31808 CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e613be35-8c2f-4a58-b92e-a496c7552865 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c854d1c-1305-4bef-a2cd-28e6fa33a4db CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4a676e6-0729-4264-b515-7786dd8323f0 CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0aa3df-fe44-413c-a72f-8b84c6a44b6d CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df418a69-120c-4a80-ba6c-93b75da42e56 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2535c290-fd30-4aee-9f08-c3b869c909fe CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a457cb9c-b02a-405e-adc2-9e8566ab7c2b CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e1a9c6-85d7-409c-9b8f-5e0b24bd1780 CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f92b1ce7-0204-431c-b590-a8af34a78cb5 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28db8cb7-898a-4b56-9e8b-c5cb378ac8ca CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53fc12ec-001f-409b-9d3a-085281c6a026 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c4aee6-47a7-4939-8cee-58d123484b3f CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fbe3aff-01d9-4141-a056-182a937d923c CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60daf7a3-9cf1-48a8-8adc-a984b83e3581 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ac9725d-4c39-4e9d-a285-08b6fc5e301f CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84322048-62cf-4a9b-9a5d-8533c215a62e CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f439d473-ad7f-4303-9627-50b37c25747f CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49447ba-b7ef-4202-be31-09db1299102b CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1991bffe-e1a6-412c-ab15-407cf93eebde CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f0889d-1230-49c4-aad6-84492aa64043 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0515e3d-30b4-44ed-9672-b8856cc71957 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ae6f24-fc39-43b2-b564-9901de93f278 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3078eb43-80bd-4018-9ba4-5c738b017d65 CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f613c087-a3ad-4cca-9dfc-91c7c1d47d90 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7195e4eb-7bc5-4d15-b635-ad4389a7de21 CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee685aa-fc26-4734-875e-5e1bce7182d9 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16139107-3a48-4289-a993-9161ae99ac0d CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdca6765-f174-4826-9bf1-d72b41354b2e CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d14e164-f339-49e4-b72b-5e7a6c49d017 CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2473ca1-af45-4dd4-a735-496a6bc5b71d CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dead395-d801-4d95-954c-2fa842e8d237 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1a508d-7a53-4e4c-ab83-a9fb4c41bf39 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad04b36b-64d5-476a-a800-bdf24ad41297 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 778230f7-9e11-4025-aa83-445dbad9563e CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ae0180a-90c2-4754-97d4-af78f142803d CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb25a698-f168-4672-b5de-70f64363ac0b CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8de0afa-9c18-416c-83c9-dc0819dc6e70 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f719be44-dcb7-462d-b4c8-9f2c95929ec8 CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 719a71fe-9d19-4321-8094-c2063f33373e CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ff81a5-25ab-47fb-b069-7b4ec9fb56fc CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbe977c2-f8fe-4a3d-8c8a-5d3a02710bb3 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c8904a-545d-4c53-bb9e-ce473054b54c CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 788ab387-2d11-4401-823e-e99d6aaf9396 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afcdb48-dbaa-4ee9-9512-01e3f700989d CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f7689ba-9c39-4789-9b24-843e2f89f6b8 CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36311626-b173-4992-bd7e-557fd78b51db CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b6003d8-b545-4488-ab49-a3db8edc89bb CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae3f339-d212-4f39-8046-828f14cdf8e6 CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6210fb8f-195d-4fb3-bbf4-64ebb64aca8f CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb613bf1-4c05-4dd7-8bab-6b19eb240c03 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a9b3816-ced8-41f0-aead-5f6778c98e24 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b84171a-4d2d-4b1d-8d4e-9c7a89c4ba90 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc597d44-3a7d-4e5a-9641-6e43c0f007bf CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dab5800-14bf-4edf-a086-db6a1dcffaf6 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ee5a2a2-f643-441e-a688-73fc43542323 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de35ea0-f461-4541-8d5c-3ec424ae84c4 CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 769efcf4-6019-4074-8821-5bfcc1fd8128 CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61991155-4f64-4aa1-897a-b7c71a5992eb CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7f4ff35-b7c3-42c3-8c2b-d3c4191cc8c0 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc612a82-3c57-448f-a84c-6086643ce52a CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5567d811-65af-40ff-b7c7-ca91a77e9dbe CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65bd7eb4-7328-424e-99ec-b60a2930a378 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7af21b8c-d921-4652-8186-5a8d44b7a400 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59bcba85-6a50-4070-81ad-94e0552afdcf CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc401823-8c33-4682-8f8c-114ed772d458 CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5ab649-e59f-48dd-890f-14f66dd653f3 CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fd5cbc3-fca8-4dab-9233-1cecde7a919f CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3535496-cb05-4859-8596-750c5e23f80d CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a41cc109-ba89-4c28-8cfe-ade0208471e7 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81046cd-bf50-49b7-84b3-c3c055d0f074 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfdc12e2-9621-49fc-b4d8-b91cc12f4209 CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad8d500-5845-41d6-8639-8862fcdcdac8 CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a3ffaed-764f-406e-a410-c12c3e2ae55f CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070738d4-13f6-4684-96a0-94efba139cec CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 681324bb-42d3-49f3-8cdf-9bb154f62657 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5d13cb-b41a-43cc-a068-adcbb5ba890e CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723af5fc-38cb-4938-8316-8b0e10357da5 CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c449c1-f752-4691-a7a7-34164aa886fb CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2696d775-0415-4a62-98e9-5f6176c16540 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23242943-40e4-4441-af99-63006df0b13e CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88f81aaa-1c2f-47f1-b1f5-7c78bd7d367e CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ddc65a-bc04-4578-a5ce-913862cd19b2 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bda7e4c-b35a-44c4-93bd-c59a3e248a51 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf2a6c7-16db-4f13-b7b9-8ad05d4669ec CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21a2da00-a2ce-4e73-a75c-8a9e12a3e440 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8cd2fd7-10b2-4196-81e1-3e52247e1689 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dde356ce-7254-4057-9332-d6e22dbcc863 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3364c720-c096-48ef-9649-48ed601bdaf1 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2edef5c-6296-4725-a107-ba297672623e CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9fe6ec2-1ac3-47df-99f5-d94e6d726e97 CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a30f595-f70a-4e19-aab0-1d08550c6eb1 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ddf3964-ea19-49b9-b855-68c7fd3610d3 CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2758dec-bba8-474c-8f23-f0b7adbc4d53 CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e42bc0-b79a-4f99-b5ea-9c0b6f447524 CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec439faf-577b-4ec6-8dbf-6942aa2bc4d3 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac7984a-6fb6-4322-8a3d-4bb848f65583 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d9c72c5-e6aa-4a87-8e83-42ed16941df0 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1838e2-d4e9-4b8e-ba6e-4577a277279b CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e947d6-c9aa-4665-8d1a-cf3c777659d7 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f942faef-ca52-4c0c-a014-02d2fbbb2641 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d3aed98-c9ad-4ae4-a97d-6c5a0cf9ff30 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996e20f9-8bfe-420e-944d-8997ed876f47 CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d49a1fc-9e31-4820-8cc4-a0160dcd5b53 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7586c0-0298-4b8c-80d1-e0c520186ac2 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4761b365-22c7-4b3b-8d09-4016b52d3353 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d3c312-f8d9-4d59-b584-851e3f4a6dfb CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b260987b-2401-4ad8-b5c6-e7a026d75a32 CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02118ef-b59d-4dc3-ab7d-eccc5363b88c CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8019212c-9454-4f4b-ad90-a324920723e7 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6025f82-1ff9-4cbf-9906-499bf790beca CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 796727c4-432c-4419-ba20-97cb42e08a1c CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4c5b84-e706-4538-9d97-d8802cb0449b CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53d0d309-915d-4b09-928d-4061b4d4a2f9 CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dac1ff5d-bcee-4be4-bd2d-fdbedcf8926e CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4849a762-23a4-4e9d-b936-14d93070395f CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8961f8b-5b99-4e82-a133-18da6d6496be CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ee57821-2041-49ad-9143-2bd556e6ee36 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdba7697-f458-4c13-abd3-dde2b1cbe2a3 CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e735bcd4-f8f8-4e65-a5e1-d56bb347ecb9 CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485e13fa-779d-4528-889a-e023fe5759b9 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da97bff9-3bbd-4b11-9974-bf49e145ab17 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6145eb-7be2-4db3-b8ef-e0d19ffa2a4d CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0d8e797-65e4-4ae8-bcb6-6cfe8faf52ce CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f8b46a-63b5-49e8-9237-82c3be204905 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b944b60-afa0-4849-8590-b7a194bbf70a CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa0560d-e52f-4435-b90d-e22fe281c98f CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc8fc183-0811-4681-8f40-81e0b23adf49 CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155ea847-6a8f-46ea-80be-6c3f22d1f5d4 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92e0f0d8-82f3-4e25-8dad-d8408a7bb05a CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c49e049-e719-4c44-a1f4-69b3447dd0af CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8009c0a3-2291-4d16-b2b0-0639d37774ba CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88821c1d-0938-4cb9-a2b8-50cf034e6b7e CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19db2cc3-0a1d-4d5f-867a-1e5ca11fd81d CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e695b90-a4e1-4a82-bee8-740f6246881f CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe4f9b1d-4414-4f99-8f4a-e7b252caf7f0 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb119345-be25-4447-b405-15a4aa34bb18 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faf4e60f-fdc5-4e74-b1ac-77dcff4aa6d2 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9457398c-9ef0-4ef6-b3ec-09834a51021e CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85fdc2c7-096f-4ca2-abcc-91067a7eb82b CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7921cacb-d768-48c4-8244-466cf607af87 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1835f57-8d9e-4a3c-a51d-afe9470f6c35 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c33891-609d-4bee-b7b1-107798c1c9ae CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25c1819c-1af2-444a-8775-19ece9912fc8 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b121c063-e533-4cc7-a204-d9c6b8aa7a4b CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e819ad78-bf7e-456e-ad58-29b3b0db3b64 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2469f1e3-6e35-4fbc-afb5-39d39b311b7a CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d71a0bea-a50a-4f6f-a8ea-839acba538e6 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f29e9d-4c91-4456-9207-6852ee9bd4dd CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b70258aa-fb84-4211-ab9e-ccd62105d94b CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c6eef88-c0b3-4953-a4fb-5b2a3237cdfe CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e33c89ec-899b-403b-a2dc-f761befbdff7 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7d88d4-3e3b-44ca-8289-c839296996d5 CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b795f7ee-35f0-4fd0-9645-f544784adb70 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd22a16-3b02-42bf-8d50-01e94a433c56 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42efea02-206d-41d2-8e34-4bd4ccb79f18 CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba3aa0f-1fe1-4298-996b-e19587ae645d CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e9176d5-f9a0-4908-b3da-c12d603199b2 CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7213c97-494c-4859-936c-a74bd04f1012 CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe5ebad1-52cb-4071-b03d-bb7058df3785 CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ec9309-d2ec-44d5-9f9e-90e08e679fd3 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f29586b-fd75-41ef-98b0-b7be9d13167a CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bd5e1b-dcb9-4b31-b150-e3b64039d48c CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41c1ddab-5529-40c4-b9d2-b7dc41b2c1b2 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6378b9-b0a1-44e2-adec-3d5474e50d0c CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d05623d7-339f-47ba-9d93-fef6d411ccc6 CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516b4309-8214-43d8-a18b-acd608e1202a CLINVAR:65956 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e01ac40f-0370-4955-9985-6409df4cc228 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d35df8-9d72-4913-9d4a-5802a43a826e CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a360dc4a-f295-469b-81bd-730c93be851d CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abd7b8e-0a2b-460d-8f71-a94c7977f52b CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 441585d3-a9d0-4fd2-a66b-947f4b9846e2 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a10119f-17c5-479a-ae71-e107abcbe4b7 CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07650286-802d-4f84-aabf-86d761ea0fe6 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9e4092-8000-4fb0-b4a5-1cce4575f347 CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a52dead-7741-48bf-ac71-27dd85aa8029 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18844f1-ab93-49ea-a580-fe0e1e7a5d13 CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2d962a9-b461-4a07-8fe3-e50c010273b3 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df43a279-8335-4576-bb6f-ec8943737dae CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ae02449-5f08-4f36-b1be-cff18b56d6c3 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025f1dc0-3fc0-4a8d-9360-f8589390dc2f CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc5ce5dd-4c38-4206-9eab-987606caf773 CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77b9204-aa23-4031-850a-d28c74c58313 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb7483f-86b6-4903-81be-5387e8a57d66 CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e3dff5-8f33-4e5c-859d-bd3b06ac27d2 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0b7c54a-b137-49ce-94a5-cc1fb13dc024 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8341c3f-1155-4c46-811f-3f03827ed6e6 CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee1d042c-6e8d-488d-81cc-8f1481370d65 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717087d9-eb42-4d11-b965-55ace8643e02 CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c054be3b-97ee-4eaa-9e0c-bfdf81cdad1d CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986e7ee3-6ccc-4f84-9f72-50315c02eaa7 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b25907-2a04-445e-b3ba-dfd2f905c4a5 CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8411bc-c012-475b-ac8f-064c590b825d CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c28525cb-ccea-48d5-9b26-f98247877e99 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ec0954-66e2-4efe-8e4c-4dfaee7de06e CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccd14498-651c-4b8c-8e08-61a4e46726e5 CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ad5931-e708-4634-bc15-547de3dcd1a3 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d40de9be-81ce-4ce7-9324-ed7c9bb57d07 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f5fb19-b9c2-4273-9bd8-17dbd375db6a CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97688e32-ed29-4c60-b588-1d20445a1bec CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83de72d-4c3d-4eef-9d39-053bb64dd9da CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4d3848e-96da-4574-94c1-3beccae1aa88 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f6de83-6273-410c-a5b2-38d69330ebaa CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b21d14c-da71-4aba-9d55-778063af89c1 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7818aadd-70ed-4d0a-bf04-f4189f1b40bf CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2bdb95c-8a72-4a85-ab8b-87b71d3cbcf8 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87e0773-55ed-46fb-9aa7-752eb4d462c4 CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe4fb07b-7e50-466f-b948-7dea2628e40e CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec96f983-7c1e-47c3-bc36-eaee779ec2ed CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a373498-4774-426f-8ed9-72a014aa4f17 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5139bed-a0e6-4e54-b55e-4e18b52f8caf CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9187967-a43f-4918-afaa-a0d1effe8730 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaefcc30-f9fe-46a8-84d1-7332711c383c CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7b18b6e-a890-4578-8435-bb2ba4b11ff6 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f430d88f-78a6-4381-9493-089a93697e38 CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5ad9621-8f1d-40c9-a514-4fb6419b1763 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6588a093-1655-4ec0-8cb9-5ecf1b30bf83 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66defbc-c778-453a-a526-e78a6578ac0f CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c033f0eb-c911-4ade-b2a3-38ab05acf7d3 CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20e1895e-0293-4445-9514-698982725f64 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dad9f10-d856-4bae-ac79-0ae95cd70f98 CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56745428-bca0-4b96-adb5-a0005495a57b CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb056b0c-144e-4170-a9d3-b22b105c8835 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e1265bd-2a8f-4c05-94b9-8572b6da770f CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584782af-2e88-4699-9df5-7568dc430c6a CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60880bb9-a9fc-4b39-9667-d180949dfd19 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22b56a0-9294-443e-a579-9407b2bb25ee CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab3c0409-7da0-44a8-98d7-96ef4bedf4ff CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85cb2d14-be4b-47bb-91ca-31c10b4f985b CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddebe0a1-8ff2-4b5f-9db5-912ee55721bb CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f33ef28-84fe-4b57-a29e-b13c7d8873ec CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a9c915d-1d45-43bf-9255-c20a41bb7dab CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbdabaa-8054-44bf-a032-b1ca4273f479 CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9572c38-1b27-42f4-8e68-5cba38656ba6 CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da61f9c-fa8d-4cd3-bd20-819c6c44a8d5 CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5fd7d84-0bd4-4465-aa22-d9eee479feeb CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba38c6c-e79e-4dd8-b1cd-30ac89a63ae7 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82e5bb82-fb11-4325-bb97-ed51c05dbf49 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c57d6ca-63f2-451c-b8fe-ed55c581376c CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16f79039-7784-4ce3-b315-5021c90f3906 CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd911f9-7e9b-41c8-8c21-29414987fe63 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d211e820-b8ef-4e28-9c24-abee364e8b62 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9381849-65fb-44f0-b526-8e528cc89940 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56c52348-aa4f-4d08-a258-2d838671d4c8 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f286d3c-2456-4fcf-bca5-09e42873d877 CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6f6421a-783f-4057-89e6-54125cb31a3d CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2a2074-2fb6-4de2-a44d-86f0358051f2 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed871494-6f57-462d-8129-e417ff97135e CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd686a1-d8e5-4807-b3b1-70ba6cb6f85a CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43b250b5-cf35-4ddb-a561-627c6dd9ce76 CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342bddb9-74b7-45f7-8eab-d714b68fa272 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b481b35-b2f8-43aa-a7e0-ded991f38a26 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3132c5b9-3ba7-491d-8f8c-bc33f17677c8 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 775289b4-6436-440f-a4e0-d41111f062f0 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f585bc9-a7ab-403c-8a84-2a4d21310e0f CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e2de4bb-6eb5-48df-ae58-b8c3fcaf01c2 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1cb84f-7bb5-4c06-8f19-dae6694b4a4f CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 521e04d0-6053-4806-856b-dbe9822975eb CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfbb4f2-fa4b-453a-a2a1-5ef94cf3f44b CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fca4fb3-51e3-492f-a3b0-ef7bdfbbab09 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdbedcd-6ec2-4699-88e2-cfa1907ee66e CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f754cf95-47ba-4dd7-8275-13aca6baf022 CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9423ab4-aa29-4b24-95bb-724472faec3d CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 600fe07f-5edd-4211-8c75-aa43089ac1a7 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ff6ee9-a62c-44fb-89da-cda28da02b4a CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05050089-d26c-4ccf-8add-d23ead86ba87 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599a5877-d95c-4ea5-bcc6-56ad93ae17f3 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19fc5528-95f8-4513-8104-78eaae6f9acc CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80037c50-fba4-40c2-9c74-d8b978e3c5e1 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d2ccc37-f2f1-4572-b46b-443e667243e8 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f06e87-f473-4912-9d5d-8caa63e32db2 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f46b51c3-a245-4dc4-b9f9-c55afbcabe6e CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e7ea07-da59-40ab-930b-1e49eb02bfa4 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d56a1ce-7209-4476-bb60-dc56ff6f3eae CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f513130-a772-4278-b479-830076d6db06 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c2ef32b-2633-4679-9e71-fbd13c1b7b8b CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6540b15-65e8-45b3-91ea-1b37ca40fe2b CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10120bc1-d3d2-4d13-85c0-cecec65f58ad CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f731f8d-6fb1-433b-a313-c49c825fe36f CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0502f111-8fb4-48ec-a20d-eb02f6c66a4b CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f7d3a0-36c2-420d-af94-12e39da5a9f5 CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 047870e9-ab93-4700-a03f-3470761eaf0c CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b67fa8-fb47-4564-886d-a72af4501483 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36762870-8661-40f2-8f16-dca308eb95ea CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a654ece-7d12-4f8f-852e-ca7e170dc3e5 CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfc27bd8-93c2-4181-a7ec-6f8900e7142e CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988fa56c-c827-4b17-892d-e014358f893a CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e7b7946-a870-4bb3-bc60-0e3dfd88edee CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b10daa-0780-4e58-b833-3c5531d2eaf2 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2686fa76-e0ae-4ec0-b5ed-c7729beda235 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f070d2-afb5-4cbe-9bf6-3fefff29bcf8 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc870b8-c6b5-4136-ba48-894af46ea7e6 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d186e-2464-4345-96e9-6f551449b562 CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23fd5966-e274-4d3b-a1ff-966dcea0ff29 CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7355b7fc-c6d5-4c11-ace2-70eb6a0c3804 CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 332daabe-77e8-408d-aa94-015988b9ac47 CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759347a2-90af-434e-b51a-5ae6b606b842 CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1574e740-7e05-4fc5-8113-8f52f35cc030 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8db0bfd-f6a1-4d8a-a873-b066c2572a89 CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 285905cb-fed4-4792-8b7d-6bf7fe197bd7 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c586ae31-c681-4178-9d2e-f99b26556a80 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73bf3a6b-7863-460a-b295-8c4dee9b3ae9 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c7ab0f-d2da-4c68-a01a-d8128db94f6b CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93877e45-573f-4d3a-bdca-08245b835871 CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b8f607-69e6-4455-8e89-f29ccaa7e22e CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0a978ca-5a5e-43cf-a2a4-db3ef57ece77 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9148fbae-6718-4907-8ec0-eb2f36900545 CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12413ede-9170-46b2-97c3-1a7b377e2f73 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546fab50-1533-48d8-94e6-03db1767e155 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0846e446-eb55-46c8-ae6c-fa9d912c3f26 CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08998e3a-252a-40cc-9683-dd6ca98a907c CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f311682d-7d3d-4978-b97f-c66ef8a8bb4d CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4568cf53-ad4d-44e2-abe5-8ea4e280d6a6 CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7fb429e-4792-4c79-a9d0-279a0990d810 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3059a467-60ee-4011-b5c5-0e1dd29e48fe CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0636ea94-3664-4dcb-af9e-c912d471e59c CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a4f864d-c561-46e0-92ec-f2cc1af0e66c CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34f927cc-c480-4158-98b2-6fd752012d7e CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087b1a86-9587-46dc-ace3-51caf72c0a88 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8eb7df4-21c9-4a33-b079-c309f7fd0d6a CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d439a75e-b68b-4df5-9022-5738bc62e743 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfa4f24c-2318-441a-bad8-17115e5a83d6 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88388f62-7972-41ab-ba4d-237a1637e301 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5b92082-93b6-4957-8a5a-ee2e9f55f1fd CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4c444a-415d-4c80-ba28-6566294499b6 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71170ddb-43b8-497f-a063-08d4ab02b64b CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca46a4f6-9eb7-4833-9042-3854f5e1ba79 CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db6f7ad9-5aba-4482-a89a-eea264dffefe CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8284d24-639c-48ed-8d63-327fd573abb0 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3ec1f38-1592-44b3-86ba-31ae34678acc CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0620407d-a41d-45bd-a297-356494204fc3 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29391ecf-367b-41df-82d4-fe166ffe269e CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0de8079-7fdb-4a88-92b5-ce53dcd83e34 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58c1ff1f-2fd6-47fb-b7f7-a22c2e59a82f CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29fa800-bf9a-471c-a43f-d447204eaea2 CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e0e2852-064b-4f72-a848-6108f26a1bbb CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1867380-a663-4e8b-94f2-c00c765913e9 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 709b75e2-95c5-4eaf-8c3e-2a7afde933bb CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3060329-b705-4d8d-a1ad-b587762b41be CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1cce132-c175-4b6e-8436-448c560a4844 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c490ca67-419d-4113-961d-bb3ac13eff1c CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5147d1b-04df-4f8c-90f3-aaa23fbb935e CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db9668b-f1cf-41db-82b9-0b7c8a0aa47d CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be9ab7e0-c6d2-4e0b-8fc3-8cde54d3f0cd CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78b4d07-ce7d-4e7c-aa8a-c11426fb5a34 CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26080188-8f14-475a-91ee-23acfe503ed1 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01328323-e0e0-4e2f-86de-87c6f45576ec CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 093cb8be-8910-49b7-8940-24d18a832231 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86426c54-1d39-4ed0-b05c-67812bc24350 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a407ca1-8411-41e7-b1a5-fcf61c6faa36 CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b7e3fa-f6d9-4e54-aada-91078db0bcab CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cfcd946-c282-4454-8fe6-a901c3a67c22 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2894fc7-bcb8-429d-9bd7-5723b3a3cf61 CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f28c31a-5c99-4e2d-a76f-5176e4c71c39 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d2c39b-397a-4fb5-a870-946043bb704c CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c36069d8-4603-470b-8b15-7f978aae8c46 CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17832b16-a639-4ac4-af52-ef28db63da10 CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ae10394-3b40-4086-b61d-276269199b49 CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46ed19e-2ff4-4122-a25f-f394a2d9b90a CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbc37123-21be-41fe-a707-f8cda22821b6 CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd364605-9e20-4713-9779-5c1b51ea16ef CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f403c6a-acda-4560-8a13-ce692cb3b9dd CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1677c1d-80ab-4fc9-8aee-10c4b8a7d22f CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09519ae9-5e42-47d0-aa19-42ac0a0b4a2f CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fc258e-7b28-40ee-82ce-09bcf21b24e4 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d65c2442-6059-480d-97dc-20e51364b169 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86d41ff-e0aa-4daa-b916-056f5069a13f CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2833b2a-e90f-47d2-a537-778adfc0eb1f CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea3c937-ad53-4cec-be8f-50dec9defaa4 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1b3e118-a409-4245-bcf4-f90535d08fcb CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca1ea48-cb51-4d24-a98a-9178f18fa7a9 CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a7eabf7-f439-4f44-bfa4-ee844dd4bb51 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11bc040b-6c07-4889-b429-f420dd021585 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 094a27f4-1225-49cc-bce9-8675fa820aef CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613a13ab-93a8-494b-b3ae-b47ef4c5da41 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46e0a146-888e-4e54-be00-d383f8a777a9 CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89599e89-1482-4798-94f2-2132bfc21970 CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5077d0-48bd-4c93-8464-d10908aedede CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38299db8-c83e-43ad-a9b1-fd56ac0a7485 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f866adfd-a404-43d1-8611-34b8fb1e4c06 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4ea76f-38ef-4b06-9247-baa8c60c0f74 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ac47d6b-e3c9-4919-ad49-4c1943dbec77 CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106232e0-f96d-4942-81e6-55b871eb12b6 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 001d92d6-97d3-4e50-8927-918151c52772 CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da37c73e-df95-4c71-9298-400785aefc06 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e59e5d-d3cb-4c21-a28f-6131c6647bec CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93db7cf1-cb4f-43a4-bb23-4f1e686eb440 CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f68a1b47-190d-4e30-9787-34b720a85bdb CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7363318b-7d90-46e4-9f40-e8ba5863fc2c CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8189764-b94b-4256-b6c8-96e25e0b1247 CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91072aa9-4c21-4e07-aaac-8e8a5e833417 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a7779e2-20e0-4d8a-bf8f-387fbb555963 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089c3c07-7206-416a-b1a9-81211ae7b490 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e05d372e-59b0-48ac-9e6d-a2341bcd632b CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e953e330-14be-4244-8df3-de64707e9533 CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cc8382f-df4f-4551-8f81-905907e3b14c CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d4d960-c401-4c8d-ab16-12b1ea538d21 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc26737-dd56-4d6e-856f-d3ac97ee3d51 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1097914-5629-4a31-b23b-aa53e5292f12 CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 113d7bcd-6bf8-4c92-8c46-a01b2f8460ac CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef54045-e729-4e5d-b858-245b620c7e31 CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa687a81-638f-48b5-af2e-aaeabb3a912c CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d4a848-f66b-4fc4-879b-b355dc1cda90 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41f2680c-eab0-4e80-8a81-e3cdb41100c8 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388da98f-c674-4240-b99d-48a6191de654 CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d488b37b-d361-4c6c-a1d3-14e5de5fe3db CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3600a9f0-4bcf-4dba-a89f-59b8d6eb6341 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aea8aafd-550e-420d-b2c5-d1272c2f021d CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65684835-d8b0-428a-825d-3dcfe21f035f CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5346cd3-9655-4f85-9734-ba22f22d97b8 CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1cebe6-1604-4b40-b396-825e608fc709 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d994d9e7-5da3-47b2-bcf6-c7625950cbe5 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfe0f4c-aa0f-4248-b43b-dfa5d30fa0a3 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82d0fa85-d29e-4737-b48f-4742c532b196 CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e7ff47-51fe-4b23-b4e1-021f29e4cc5f CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2280b2ba-043c-4aa9-a184-e9fc261061d3 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25928db5-f927-4fe2-8b9d-e78ef8fe0968 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41ed45f0-f4f4-4bd1-93c9-e8745856c1ca CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa1891b-adb5-4a92-a34b-d028312acde3 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90c0268a-4326-4fe7-8134-b547d9300e99 CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad61ad0d-9509-4320-a79c-eb246baa0efb CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d15ffa6c-353d-4ae1-a158-943077df4ff5 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548d98a9-0b19-447e-872b-bb959f1db276 CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03b81b20-2ea9-4b5f-a9c6-d8117b2d1180 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457c9950-e67c-4d19-aa4b-7035efac3c4f CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca16b001-1a81-4f67-ae4c-fef6153971e5 CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618829d7-3632-412f-a895-b554ad40f4fc CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b52314cf-6769-48f1-93ce-41645cd52fae CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf4adb0-3936-420e-b06b-3e7a4fd46bec CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64983cb9-a685-4195-91ea-3a0b3c75fd4d CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9632359-f8b2-4a88-b3f9-fb79068e976a CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdf9ce58-9634-4727-9aae-11b268abe83f CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a745c48d-5ea8-4715-b0c5-6488a5a4ae4a CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c1f47aa-12c3-4804-b6b6-62d33cff8669 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a933119-715c-4a52-83c7-79e60da760f9 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b3409e-481a-4ba8-993b-16d1871bab45 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c238b6ca-0df1-4fa3-9284-4fbadd17e171 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c00a397d-aad9-4bf9-94e3-02efdf39ef85 CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c421602-d162-40e9-bb1c-aaf79de9a63a CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2316281e-c128-47e8-a1f0-3ac493fcedda CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7cc6aa-e393-4de6-99e4-3058951a0752 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 702f2bf9-35c1-4bdf-9f92-8462bc8ac8b1 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c4faed-b25a-4489-bb60-1c402c95d1da CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c57a8eea-52b1-497f-8e7e-9bd4d87219e0 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e301848a-d5e1-4f7a-ac26-bac718144a5b CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e007728c-c235-4a45-a5bb-c208109bd0ba CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19085c0b-18c6-4e85-a465-6e60cf9dfa4b CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60923520-7bc0-425e-bc66-15e477a693a1 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c3ce76-4c0a-4e40-ace0-2fee6f5426a5 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed159bfa-9881-4854-8ea1-b2348656d4d2 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42747524-5ac7-49de-8d26-5390727eb34a CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b70134a3-049d-40cc-a572-5eccf6c0bf57 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9eebe4-c3c2-44a8-99f9-38b1eb676e54 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdb5f5b8-8fce-4668-824a-723406a69822 CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f2c1528-65b6-4e91-b9c4-2a056abf50aa CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e83bd2ef-5771-4ef6-90d0-7492c7c2ae14 CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f8f2c2-f0b3-4dc4-a626-6f31c98538a3 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d5c53e-3157-4e9b-878f-321b27c66e3f CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd3e3c0-8dda-4dcf-afe3-b070ee902ac2 CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a956dfd-3a34-43a6-b9fd-3f1bc80a3e5c CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e307f5c-e059-4879-987a-b65cd8e63489 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79d651b3-5f1c-4190-aa28-a0bafd9e5322 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380d5547-8b12-4f65-94e9-2cccada58ddd CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7db8c1b6-7b2a-4771-b330-a4f01db7d159 CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317d53ef-b5af-4297-8c8e-357d3ec93f97 CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b67ca854-96bb-47d5-aba1-d0fd35414fa1 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51eec252-3f78-449e-a5e4-20fba91ffbe4 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52524e19-cbf7-458c-b37c-138b3a91a4f2 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd367ae-dad2-43b4-8e34-e9a3d7e7cdeb CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ee85eef-b086-4711-b450-0d45271b302e CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09da85d3-09c0-49c1-bace-28e544f0f53d CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fffedb45-959a-4efb-aae8-27e768cc84fa CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94001033-84ad-443d-b2a0-96a80e57c3ad CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8aa3851-273e-47ca-ab84-af3ddd2a6ee6 CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592b147f-565e-4f2f-9caf-de42e586129c CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 298d7118-0037-49fe-9aee-87d78b3fd88b CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338521bc-b957-4c63-9ee8-349669424186 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dc0b06b-667c-4118-8729-ab784aa7c977 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9169397f-b1f0-4928-8e82-1aa980a8a670 CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12d3c1c9-6234-4e3a-8345-29a7e86917f1 CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e42413-bf9e-4131-b5ac-4e3c77c1ab2d CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41d6e03a-5574-4542-95bf-8481778e9dfc CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f3c54e-6a6f-46be-b8f6-e25b1c3f109f CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a6d6f37-65ce-4fb9-b798-21bf4d0e56c4 CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d223af-cb99-4421-ada9-87335f0273e3 CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2da589f9-71c6-4d68-8007-94597018f97a CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe83dce6-0a60-4e34-975b-457be788efed CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37a4af98-5956-4323-8cde-27aee1d26c47 CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6566d8bd-37c1-41a6-9384-36c4e060ca58 CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bb5d1a1-9e05-4cef-af15-0a900b937eb6 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5867e53f-f215-415d-bb64-2c3607e630d9 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5103fab-8327-4670-a863-c6d86008fc81 CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5e02b7-93f3-4442-a704-04b15e56ab0f CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1401d667-8d60-485a-9d89-f95d170af0dd CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a390712e-1975-43ae-9c7e-9e0898581892 CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f5af2ee-004e-44f4-8fd8-92f9268952f3 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098e31f4-e7e1-4c1d-a55f-cdce18726c21 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce28f20b-133c-4166-badd-d735d91d915c CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134fa3c9-0dac-4551-a17f-e0c67ca44e95 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7051ec40-7701-49ba-8c34-80a8df613cd9 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4fa1b5-3b17-4840-a088-3285f696fd1f CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19ef0ddc-da33-4f3b-814b-65f92664c58d CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1991af43-9934-486c-8122-3a1c6e7b1b4a CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c37d5911-a522-40f2-b06a-7e9f09cdc854 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9dc909-76a8-44d1-b918-183556c460e0 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1291205-3fcc-4e4b-8fa7-a3188d336e9b CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f32531-ec0a-4431-95fb-8efebb55e576 CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98df8f1e-4f78-4caf-8e04-3dc5db02636c CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81b2b66-703e-4ce0-a5cc-9a7b867b3710 CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34a9c87d-7c18-448c-a811-e0026cb8fdad CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3be458b-cab4-45fd-85b4-f5b9c67cd49e CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf7b6686-0c73-4252-a515-e570f2bb23c0 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3359929-e536-4ff4-9a9e-2e8c5dbf8e64 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba4a4e69-0c3f-4ffd-8b14-6549d4399cea CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472b9ab2-a58a-40f6-b771-6e2b39c4a932 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a980878e-7e93-446a-8bc7-a991dc1e66a3 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d8a20a-be86-425e-818e-6401e684f0f2 CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b922be9-7a42-4a7d-86d3-e4d442522bad CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f727a1f8-bf93-4707-bfea-0f1d58d998f8 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0d9ac5c-932d-43cb-937d-032070bdcb81 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408e799b-e3ea-42ba-97bd-8ba3168d6789 CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f90087d2-e4a3-411e-8efc-d81229f81c33 CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a0680c-4ffb-4e83-a788-81f519cb59ef CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63852e3b-a608-40f8-aa1a-bbddc1fc0c37 CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbee8b2-30d1-46dd-b136-205e33f110f9 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b2ac538-c0c1-4182-a84b-b98ba5615267 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf9e402-a2f5-44ee-8690-5cd626e26b07 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f7130e6-ea76-45e4-a267-877015ec9eb1 CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e72fc44-861a-4b56-ab85-5cda4b169416 CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d940a23-2983-4dab-85aa-f9d2dc9c2a05 CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a72775-a01f-4027-a7d6-2280a63ed21c CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c747ef08-e449-47c7-8759-250e4e2d98f1 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a4f0e9-6351-47c0-9b78-3a2dd664637c CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69bd8ec5-af40-457d-bf53-b468e8f43a34 CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b900b4-bf6b-41c2-a25b-db661849846b CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d3ed6d9-b2d0-4c57-9e67-1f0f3ef09d76 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3efc87-58c5-49ce-9057-809bec183584 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b640cde-38a4-49d6-88c1-a621ab69d725 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcb5c6e-e0ca-476c-a2e1-df5b91a69441 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 635eb77c-bd69-4781-90be-2e459253face CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96e2105-3598-4f45-82d9-49e40a1c139d CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e92d20b0-5ee4-4d1e-9434-535fd90dabd6 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c909021-0b6d-4def-9761-ee6aa802b3f4 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c9f61fd-713a-4045-99d4-0322fa24abe3 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ce27ea-37b1-4fc1-bbb9-219b86c19644 CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7083f79b-6c9d-4558-a1b5-548a9c7b02a2 CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0ac591-4c7d-4049-b9d1-f0adbbd5c9d4 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17e97a1a-68da-4bd8-9d54-bec52720a581 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc16dd2d-73bd-467a-862c-6c6ad1420b84 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6b48a68-ca78-48c2-8afb-29edfaed929b CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41dc922-2785-4b6a-b69f-571ba75e213d CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 267557f9-b1ab-4cf1-a168-a2eb081b3053 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed78f90-1147-4f25-a838-f085b0df75fa CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 684b1ccc-5184-45b2-8d2d-143f0057dbd6 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a6b731-ee7c-4478-bb67-9ef62278f321 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efe85afc-dc95-40f5-8e39-83a05168408d CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17d596b-6ef9-4b3e-ad1b-8fad2eabe68b CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 557ef927-8bb0-41f2-b4a9-a3161f6094e5 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef100f16-7049-4a42-8a19-bc547716cf83 CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eb1db95-7e9a-4b0c-8f18-9dc97dff1d0f CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5dad4f-66d0-4ff6-93f4-b10596c9bd2c CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87805b06-f3aa-475a-92ee-87afd28451cb CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51bffbd-4826-41aa-8879-717e60a6155c CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac6f0451-415e-41da-9981-0e8e9ec82df8 CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9bb313d-c9cf-4d22-963f-e67f846827e3 CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a17e0181-36c3-4429-8547-06a0d0be9d7c CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0052f0fa-03a2-4531-8ee6-9e6d162db457 CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 301a9758-61ea-44d1-821b-488f12fcfec8 CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10963d8c-4a33-4c7d-961c-266d5c8d36cc CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce51589-f42e-487a-9094-a4a66a53c1f9 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a5a4ea-60a8-43e4-91d5-3605791e6952 CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d1ecec4-87bb-41cb-bee0-5296be4e1d75 CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2567f22-6165-4984-81e0-b4a48641a86c CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4d949b4-fc09-4c21-8aaf-0ca767032e92 CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfa50df-5d64-4559-b868-04b2d6dc21a7 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df0cfc34-6a3f-48be-b505-9e0f5763c839 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3defcfb1-bb4e-47b6-b79e-3408d687c957 CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 482cd1e7-a893-4495-a60f-b219720c213d CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80a76ed-f205-4a8d-b07c-64239de3f40e CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2234a1fa-40b4-447a-ba56-ec999146f42d CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de938e7e-4675-410b-90c4-8031f4ff19f3 CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03fc8453-da3c-4f4b-9c66-9a6207c4e523 CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f39522-8bdf-4fee-a31c-be30f8903bd1 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08d17cfe-5733-48f2-ba9d-d7947bc863cb CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b78d94ea-7baa-494b-a61a-a8e661bf85a8 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea1d9cb-b32e-47a5-b8a7-89c2ac448e6f CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426f11bc-fb7b-47d9-a52a-a0c0cfd323fe CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fccba8c4-d60e-4cf6-bc5d-eaa528a36aa4 CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fd6467-142e-4a93-bbac-062f59427169 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f62bb02e-4474-4e94-885d-3d07695a7a52 CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54cf073-ec81-4b23-a22f-2ef25dfb60e8 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 752e1d25-5fc8-4233-a59f-42e527b03fad CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f400ebf-b179-4c73-a92a-07b75bd4c9f4 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a42bb1c-c94f-4ac1-8838-73fa8f7798e8 CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f71a35-e07f-4f57-a8eb-c6c6c7b5dd10 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b171666-144f-4ed5-8109-9a8064b9b6f6 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f837ea37-b633-4c1a-a69c-f9cb2e8dcd3d CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 271f138b-ec42-4f03-b6af-5489b8e32ea1 CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7f1f4f-eb80-4d96-8da7-40090c7a9bc3 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73790af4-1881-4aed-8b82-f81206701e1c CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba65470a-0789-463a-aa22-06d5e19a2c1c CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ac79696-bbc8-453e-acec-b16e0340fe02 CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cda28e1-a5da-4054-a5de-d7439d20797a CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bd794c1-c795-4f67-8fa7-8b7976660792 CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3fc17b-7119-449d-a666-f61c230067d8 CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae89a459-02b8-4cb2-8369-1102bfd0f409 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e65b744-2754-47b7-b213-fab9f9728f60 CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b2c758a-f12c-43db-9ef8-bf571394e978 CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eab19a-a5e1-4cb5-a64f-707d08be185b CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 437ad758-7c71-4063-99d0-d91a876f0b72 CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22009a6d-7bc9-4200-bd4a-d57f8bf18986 CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad192b81-e34f-47b4-be61-0d569e4fde02 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a8b19d-8b88-4425-aa1b-cac5167955bb CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bab8f035-384a-45dc-bb74-7a39daced468 CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf5fef7-88aa-4bb9-b0a4-c1bb2b6f92f1 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9e66e3c-7d00-481d-b34f-4420d7b80aac CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea451326-9f32-40a6-a9d8-00bc4743b517 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e74535d-7658-4f1c-beb2-77c1cee86ecd CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938e4a84-e54f-4432-b26e-ddeb97dcd263 CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d0fe08e-f411-461d-be71-c5d2f3d64f34 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f680567-50c5-43a6-9345-f76edcdc09ff CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df1024b4-146f-41a7-ad70-6578839368ab CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fb9431-f270-42d8-bda4-4b2f72a42f05 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86034f69-4155-4322-bfac-657c4c04db21 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9dca48-4677-4c06-a6de-3579a247be68 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9379b94-be93-44e0-a033-474c01c6045c CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c79cf2-a37c-434a-9adf-8641013965bd CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf8a7a9f-bb81-4447-b0cf-86ac5772a8fe CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba6ac5d-cb19-409d-8e64-7cff1f7ad4ac CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dcdd600-7d3e-4c6b-b3cc-432f7b1c23ad CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2852f50-528d-4bb2-ae1b-a9c642d76952 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc6408e-5992-4008-9653-e6bb7b3538aa CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2aa4bea-5dbe-4cd7-9a01-ca8fda6174b0 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e04d4df-c239-4da0-9774-f52470992589 CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0c487a-975f-4028-9810-6c16b061138b CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c59436c0-3b91-4e2f-aca1-ee689409f0c3 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 971bac56-2f3a-42dd-92b7-1d4d2ccd77bf CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9bef89e-1d01-41c9-9126-784039001b6e CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590c8849-9d34-4372-8f49-c38855bc31a5 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f13b12c2-c6d3-4fcd-a309-347cc874dd30 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c357796-1306-47cd-ac4c-da79d87dbfdb CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0983a2e-6959-4947-9837-b0112555157a CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e19935f-1ba7-46c8-8f96-628b77342b51 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e61140f-d9b9-4f19-bdde-db5687f8a41f CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b369a791-c878-410b-a5f5-9631388eccb0 CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f4011b4-c17d-492d-9fdd-8aa1920ca1fc CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeef4695-249e-499a-8a2c-7f8580e954f9 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea57d12e-677a-4b28-be82-74902a443f0d CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e797c72-a506-41cb-b564-b6a0de9ea225 CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b016ec38-b39c-44c8-aa42-60d381363369 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b4577a-c881-4764-8c76-79fe4f0db703 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fce6d888-ccb5-448a-9a39-4f1304a8e118 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28fb4098-c4b2-4ea1-a3f0-829c02145d1c CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b29d21d-c8f8-4da6-819c-ed80af3aaa78 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e93869-d905-40db-b4f4-51687ab41a2c CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 042aa454-1245-4cf0-bb52-554cc1eabd53 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1827bb8c-cbd6-4511-a68c-ac1b54b27121 CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9d960b5-c71b-4c58-bc41-5890da68f1f3 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848d0a58-7612-40a1-a617-464c32c80c50 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ca387b0-3637-412a-b05e-8f3a68d5657c CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73232539-ad2c-479f-bafe-bbdd9d8869bc CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc066128-36c6-4ce9-980e-4fd24f582553 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e52dac-d359-4739-b1ed-229d782fe40b CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fb992fe-dfde-48a6-a986-6223ef6bf97e CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea5e9c7-53b2-4c86-82a6-ad3290b19936 CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb4f1a5e-14a3-4eeb-94c5-cfe8dc1b5126 CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6194da-be68-4cb1-8097-43c1d06eb58f CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c52835e7-86e2-4a00-b318-e6b741b48176 CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adaf6151-537f-4472-807f-294aaccd29e4 CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8b55e4a-9356-4086-95d4-c969e63cb33d CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1875f535-d608-4a66-afea-59926af3479b CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8741f7b-d2bf-4db5-9283-ba96f460be32 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80d344e-1928-47bc-a035-873560ca9b78 CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34bb055b-06b2-44b7-a982-3c1db0ddc028 CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5a1c15-cc4d-4ba0-941a-cc36ad8e5f3a CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83bf3e22-e353-4006-a168-97970bef001e CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529964ec-5341-4734-9691-37d501f88901 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22db68da-969b-4dbe-9779-7f5b6ef31a55 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b973dc40-07e6-46fe-a38d-a669306737b0 CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f47718-4711-411f-9b47-7070388fffb2 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6ea629-6827-4846-bc10-5fa45fd98a65 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a616bf5-b5e6-4654-bec5-56eb991ac5ae CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4aab25c-84c5-492b-b39b-4e7036a1f0a7 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a260092-db47-49fd-9171-4b4cd703cfd5 CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d91ecbc-0281-4674-b869-a700934b600f CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2811b384-811e-42d9-a1cf-998f12420971 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db929f4-2e50-4389-93a3-25345c6746c3 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2cfa3f-0b74-4ce1-8456-76e961fe8ed8 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757b9439-ac91-4ea6-82a1-17567c509b64 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4479213b-658c-4a81-a1a0-ccf7df05cb8c CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4803a5-1fe8-4a82-bfea-b19f6d5a3e07 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b08da7e-8e84-4f0d-937e-9b02269bdc44 CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7598d1-c70c-4c0d-bdc8-e6c9f2edbf2c CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77136353-c185-4508-84cb-7277c7557c3c CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ab03d2-e339-4982-9221-7229a0e57ab6 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a74f8f4e-a6ec-471d-9165-d10c7dd2977c CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff1c161-85cb-46c1-8d6b-65a3e2c726bd CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c9d3e5a-0c3a-4a5f-a1f0-5b3de4d59f98 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84cf5546-2299-4b58-bf00-421f8be948c0 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a4bda0a-ecd5-403f-9a93-aaa27289789d CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecc0c37-df1c-4ed4-baaa-20b32691fa9a CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae8e4a59-3d3b-4796-b780-af58756d3e36 CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 891dd3b7-b35b-4dc2-bfe5-b180d4bc3180 CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7dd7906-24a9-48e6-8704-098698b0824f CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f38d29-857a-43d7-8660-cca272fb85bd CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98e71756-7645-41cb-8386-187e91f3ca98 CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158bb48b-7b1d-4b17-9fb7-15f06d4a164c CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd2aa938-2426-4f93-bf91-23f3e4af7588 CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad57ca38-7318-42f8-8632-19581d9ad88a CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abea37b0-afaf-4741-b0cb-504ea30ab988 CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e05686-5fea-42fa-a08e-88047994bd4e CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9541c4d1-e027-4180-9425-ad06a6b667af CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc07144-fa9a-4d66-b1dd-833dea0a1a9b CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d12db074-34ab-4175-bd9a-c203b71ea994 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f8979d-f0e0-4c31-8a6c-33ff9225d3f9 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c05f492-6e6d-4a8c-af72-af44340b07e4 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca7a7ec-2387-4b0c-80a9-5b25ef8165d9 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb36759-8c5d-406c-87b1-30ccf60c7ac0 CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93246d74-f668-4e7d-9fa3-1200f99d8fb4 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7285c714-bfff-4bf3-b261-f2736ade0b54 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a8bd25-3ae2-4c2b-8f6a-7d11b41e0e8f CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772359c6-c3a2-4e1d-a965-8e447e601fe1 CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9592fbf-cbd1-455d-95f4-b9c258a4db7c CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f830629-a83f-4151-ac73-9ac550078fc3 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5244d7a5-dec3-4abc-89dc-583b3e88b389 CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0f9c957-cd2f-482e-94d6-30aebe27f0c9 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df418cab-188f-4215-aa84-dc7c5f5a4e3a CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13b06a87-c4a2-4f96-919e-4462815e495a CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de15bf6c-3c91-49e0-8327-4275c13f3759 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6ea1916-6808-40b5-ac76-35fa1ab1f53c CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa992e7-0f70-4530-8c89-02db02cbfc5c CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a29157d-368a-48c5-9f6f-a45908a149ee CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c36496f-077a-4cde-8d21-be8cf0e71601 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b141acc-ba0b-4e53-b0c4-6189fbc9fcf0 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ae7667-27c2-4f64-974d-1c9b2dfe5c3b CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ad2e458-0ac3-4278-b127-1f3c856b191c CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88956194-adae-4a47-ba3e-31503ee687e8 CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67dcff4a-68a9-4216-b6a7-d132dab3cb1b CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fdde7d-3790-4afe-83c2-c23609e74e55 CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ae53aa1-7d3e-4aca-aae7-551934bdd198 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36921689-c5d8-4bf7-8023-37f0b7a5bc76 CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a85e4a64-cb31-4d08-84c1-3dce42d73572 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b715de6-9b70-4eda-8760-9a0cec1770ce CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a5bd5d-0e1c-417f-bed7-19de8a3a0cfd CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0234a9a1-2f69-4342-a4ca-f2f7251081b6 CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 959fe41d-8eef-403f-bf1a-72af29f936b5 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f9a716-4965-47f3-94c8-1b61b0cde076 CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af497abb-cd61-411e-95dc-176d0d71d29d CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04773842-e35a-4ee4-9465-8bcce5e8fa41 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8612842-6278-40ac-ba68-3f2ab8e2597d CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5773f5fe-9b85-4267-b927-cd2f6053491c CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1533a73-37a0-48b5-9f27-14c6503126a6 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d912c55a-b0a9-420c-9c76-3dba32391a29 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50259fea-e76d-40da-9b94-ab4280638c6b CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170deb03-f98d-4040-b8d4-995d7fc62d4c CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d1c09cf-75ee-44e5-a361-eab80983f021 CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2968b6-927e-4cd1-abe2-f34f54df54a5 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8802658-b9e4-4c7e-aa08-2a6ec355efe2 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fb0770-dbe4-4b64-ba8f-67ae199393d7 CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca5ffea9-5875-4771-9736-798e22267ec0 CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1fdd27-2e26-4b56-99d5-16fc760a7d4a CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1e38c43-6d9d-45cb-ae30-5bbab4637511 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87cb5096-effa-47c1-8997-8a9fbe399a16 CLINVAR:133163 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfb612bb-171b-4a5f-ade8-206d22fc82f3 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228bd56a-837f-4801-84fb-f2f80660b377 CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b495ea95-39b2-4a5e-8cd1-930e3d9360ce CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9fec54-1055-4a41-85cb-7b72ae09547e CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2fbb250-d779-447e-96e2-a569cf840223 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbc7371-0144-4e20-bb52-5e208f835133 CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16b03abc-d6b3-4dab-bde5-695670bd3f97 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8bab6d-696e-4fbc-9b8c-82ee6f1c8584 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99592e37-0f2d-49e0-9eac-1984f27c1535 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb755659-dc48-4783-8560-6fb163049f4e CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85f7eb86-0b03-454a-99dc-568f2d0242db CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6ff647-73bf-433a-84b5-96d1844b0078 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d82588-b3a1-4b51-8f38-709ee6749c2f CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6435e4-8316-445b-b3a6-e9b80e245176 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 371505c8-5f33-44a0-97db-55e36a709688 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa16ef4e-8e23-409b-a102-699ae2132cc8 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55372479-078f-422d-a051-a2107d180db2 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bd85f1-9300-44cb-af30-a82b43c77dd1 CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90a13b1c-4b30-4837-be00-7137593d9056 CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aebf88c-0d1d-4e02-b1a9-66059b438f71 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcba1bcb-cf23-4cd2-8278-40f42e129239 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1845d52d-fe5e-4891-a5d6-4fbd257790cb CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b87856c-0f7f-4c90-9a59-744f68647451 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a869865-a25b-4ee7-ad13-9b4aa2298ce6 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 000c5bdf-4cec-41ab-b828-81b9b70e1198 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28c628c-0fe0-4c3e-8206-a9ee3770906a CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c07849b-88ee-465a-9f3b-12b434b7a6e5 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7fcca8-e086-49db-b35e-b74bd7b58035 CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7bd4cd8-683d-4e2d-8fb6-3f88a4405b87 CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2865082-015a-4f9b-9d1e-c6aaab042933 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da8c6d2f-4088-455b-9272-9253d83c3cf1 CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a98461e-e5f6-463b-99d3-fa52312dcff1 CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9351441-d878-4631-b170-1d024a214a3d CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd042b36-8e85-4a97-b8c9-acd3c6691fe2 CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73f577fa-f547-4f6b-9755-6ebb20e30cea CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44f7e4b-af84-4542-96cd-eb75d4c67833 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 835a93a0-6278-41a2-954d-79424dc3e8f2 CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03233746-a537-4d2a-8d70-8bf1087ebdfe CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b001a22-96d9-44f6-8f4c-5fd048d42711 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbeb74ec-3e14-4aaa-bfcd-23e005d93060 CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d3a93d2-57a0-4d4f-9487-837acd6c3837 CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f272944a-0750-4281-a2d2-82341a2f9189 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71484adc-3f2c-4f9b-a01a-81b2aa13bb6f CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d5a86e-d889-42a5-b92f-b3fddd84c8e6 CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1456d19-48aa-41f0-9b6a-1c8bdf121697 CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44d2119-7a03-4063-bd86-9f12e083369b CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50f589f1-6d1e-460e-9141-9d9a4964b925 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804518d7-1506-49f1-b06b-140856ea8b7e CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2acc18d9-c389-4cc6-bc9f-37bb88184c64 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1db4a03-f5f3-4e70-a311-e65c05d1ed56 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ae33d1e-b59e-4542-a9ea-ea5dc00e9685 CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca83a76d-1e37-46ce-84aa-f89dea203998 CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c6c689-197e-4aff-8318-41c57bab9102 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41cba330-6935-4376-90e7-d431e0768f84 CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6be4a488-89bd-4e29-a977-08a356113ebf CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad77d8d3-4d13-40f7-9045-b0b04e4c8c6b CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c51aff4-61da-49d9-81e8-2e94a907f9cf CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36a5b9b-2af0-4812-a052-e7be8d2df4b4 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af63001c-fe4b-426f-8595-da41a5c562bf CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01793a5-2074-4d6e-a580-08091fe80831 CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4197ef8-e27a-4882-826b-3e8ae5f7dd86 CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe072527-2c01-4a61-8c9a-3106788feb62 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fb0b7c8-927a-4c84-a815-5956cec9a175 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd14cb03-8a8a-4cd3-8438-a5f0aae84f57 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f97c0a0-1bac-49d0-8d3d-a74e5166d78d CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f41b9a9e-eba0-4914-a46d-ae54607aa440 CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb202454-c9a7-494e-8b2a-c3da80a60490 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9305bcd-35cf-4aad-a54d-f0ead9064bd5 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 724379f9-293a-4a39-a55e-a66b9732b51c CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a41097a-d87d-4a8e-b2dd-6f49d102b9de CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f0d0a1f-7298-4543-85a2-cdf0ea7161af CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403ba344-dac9-42c4-aadc-ac8e0c5b4465 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ba9b10e-550d-42f3-b56d-6cb0af3fbf29 CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2304d1b5-3d39-4f48-a0cf-07af11490d16 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d222a91f-d8d6-404e-b53a-ca20449a6e9f CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6351c0-0d3c-4c1a-84c8-a2bfd18f7aa3 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fd8e8e0-69d4-432a-ae60-ba9340de9bdd CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bee02db-392f-4194-bf9b-19ccb02aef76 CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dfe9638-8303-4fd2-bc43-cc51f146986a CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9123f2-9204-4d14-ac58-f300d23a3564 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ff985e4-2c0e-4306-b090-0e964e603aa0 CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc7fc73-418e-4856-be51-f0247514d221 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab63ce38-d0e5-45f2-8c4d-cf404da1ccc8 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a75fe1c-42b7-4b3e-9ad5-0d494d5b49eb CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be2db94f-ace1-4b44-9210-3ab9155e4f0f CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43f85cd-51e2-4fd8-bf56-f6ccde4677a7 CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99f59f17-f13a-4294-bf3a-4610cd68a7b8 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09edbb5e-7838-4ed1-8d3e-3baee68dc73d CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40e23b5d-64c6-4499-aa44-f5dd46b55f4f CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c306369-204e-40a4-9346-52e5355d52ef CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67f6e200-4041-463f-925f-e51a096e3d7b CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274f7fb0-162a-4a12-8577-dca6c2d01c20 CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b1d3cdf-8f0a-415c-8390-298bffd54721 CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696bce2f-8532-47f1-9877-eb8422b701a0 CLINVAR:406604 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38209d3c-1c14-4203-aaba-3b9b10be3686 CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bd88a8-cfab-4828-8d40-1ccd2556b32a CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82b16c93-358a-42fd-a1e8-323042e707ba CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9078ad1a-2a30-4fbc-adda-0cdd0cf48105 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34b3a37e-d2af-4aa6-85c2-a32f05f06428 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f89a6ee-539c-4ac7-9d35-ae00a3e4d9aa CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463bce4d-1b92-4e96-91a6-d4a229303bff CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4477a0c-b3ad-436b-8091-287d7df6dd2b CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c2a714-c9cc-4e58-84d8-360539f72e53 CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c7a37e-76ff-4718-93ad-38c4761f9a7c CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddf10e0c-06f2-4250-9d0f-b30a637c876f CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8af795-c2db-4fbc-bb90-4bcae3c0ce9f CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06cbde02-25b7-41c2-9df0-d50d205c3c64 CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae4cd8a-79f5-4f9d-b45f-736a2368d692 CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f6eae8a-4cae-4f96-9eb4-4d2a78161034 CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3907a1d6-8e88-4e10-a0bb-82cdd50b7b9c CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6e3f0bd-f33b-4891-b56e-41d3223b995e CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4077979e-95dc-4414-a4cd-90a86d76ff2f CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46a1bd63-8f8c-45c6-ae14-91f2af220423 CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e32aed8-398c-4d34-a2cd-61a5f5c3f58e CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d051e807-1643-4242-a731-8e34720873ed CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24e442f-8f58-4df8-b6bb-7edd56839042 CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5151a43-a616-4b45-ba99-13a4fad90b7b CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ae40a9-0c84-4593-a06f-71558ad73928 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93590a0e-b8b8-4f0d-a145-cd79ed353d1b CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f603b4-3174-4c8c-9ba7-a10e0a36dfc9 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df295d49-01ee-4538-ba6b-61fe3136cbc6 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3311b211-b6e3-4931-a24d-eff033d3a481 CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6fbb22c-ead4-436f-b422-2df06f8e6854 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f659fb-9f0f-4b17-9566-f14aeccfa4b7 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9f1e8fe-cc59-4c9c-bd8e-f0eea95ff286 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76bee5e9-a1bf-4da0-9890-68912a8592bb CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a28a5ff-e0a2-4987-8600-0494660fefe6 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a938ad92-37c9-4bec-a8fa-388030aaed9a CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06e77e32-7378-4a3e-86cf-6062cdbc286b CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7bdeab-c86d-4946-9687-14a53bc379a5 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e1b90d4-6d3b-430f-a615-0a9530124e24 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1425000-e958-4dec-ae2a-b41db5054467 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f714e13f-b8b6-4244-82a0-40a072554926 CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d329ebc-482a-4922-86fd-bf1c6664f366 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29415184-c8df-41fb-9792-691b66b65d1a CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484c88a5-f281-472f-b444-ac484e2d19c4 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21ba6618-9e05-42b4-8701-2e4145d848fb CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c80e5f-6f2d-4f73-a152-ef4963117e44 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf695451-da40-418c-bd6a-06e1bc6a2b27 CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fde705-2585-4568-ae1f-d221c402a9c5 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19576849-35e3-4c07-a650-b8345ce5d9d0 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ae027a-258d-465e-b62f-66dc028c36fa CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96fc388f-b102-48bd-8790-62231eab24dd CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2160e29a-cd4a-4c6e-8a14-c3e40f634994 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f2835a0-ce6a-4537-b790-29b6f0ae5549 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d35ea5-62f3-464d-9367-9a16b671c1c1 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d568d97-cad7-48f3-a56f-400ba777afe7 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be91bad4-93d1-4468-870e-5016d0b27c31 CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7310f35b-43c7-4cb5-83c7-937c323603c9 CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f23e28-92a8-43a3-a22b-76ad84d1e367 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71d55dd5-cfa8-4fcc-9926-3ad417dd1b47 CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64d8b41-65c4-4b9a-a31c-86f7a14aad0d CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7742e009-fc43-4db1-8f3c-691b9a95b1c1 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb15909-3364-49c5-98cb-67a9e9e074eb CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37fee531-48c8-4eaf-aae8-16bb6d3906ea CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49983f67-ec7e-468a-ad15-869a32ee1f85 CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c24edfcf-ce9a-424f-b648-99d5bcd0d78a CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c1ebb8-f5c7-498b-877e-8327dd8e4ad3 CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a963ca6-36f6-427b-abf3-b68b15b87a97 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce8cade-05bc-4e76-97bf-a95572b1b6c7 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96c1ac92-cfca-4553-912f-e69d44b9b945 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de0127c-54ec-4e20-b72e-4897abc66993 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 399da48b-9857-4e7a-b93e-501aaef6504f CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ae3bba-b52a-4ccb-a87f-28ce76e9a7db CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c2ab5f3-555e-49a6-99ac-7b7370ab3f98 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b570baf-eee0-40fc-b9ed-09fceaad7f8c CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4272db25-09f6-419e-87e3-82f8d064ac37 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8980cd7-2909-436a-b56b-1f5d28897a7a CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a7daa90-5bc9-47a9-8053-3bada89d1c56 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e307460-9db5-490d-a8ef-2e30e7a83566 CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65f0945e-d4dd-4be4-83e8-33cc697610a3 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf74c5b0-2f3f-462e-9f16-4b9b4e2a43c4 CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7476eaa-b0be-4d82-8543-55c9de6a3c82 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d38d81-41f8-47e0-adc2-481fbb5c2c18 CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fe09b74-7688-43f5-ae88-6a9c9d277d7b CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49c7c92-0024-4676-8576-70aee0b6eb16 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f533a27c-7cad-4e4c-8b0c-8c7829efce06 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabcf70f-7777-4ba0-bb4a-a5298c8b2abd CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f1d526d-b986-49c5-9dc3-1230ed110170 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18b4f12-cdab-48c9-b130-e60f860b8d63 CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a46e06e2-56f5-4895-9073-b1c573b741e5 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5f7ae8-3478-4a54-ae59-d6aaefba1a2e CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad34ea71-05bd-444f-a5f8-cf518dd8ef1f CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de79eaac-e8d6-4771-bf45-2912de9890ad CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 408c352e-bc48-4239-a0a0-38b94bebc429 CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7b97b4-aabf-4a66-b80d-c68ff9831c0d CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 932a18a3-ff26-4c10-992e-1acec080c3fe CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4453f9b-d97b-4fa6-af17-6b4fd8dff4d3 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c3163da-0acd-4ff3-9d7f-78fe675919d0 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed2580d-d7d3-4ea1-a1b7-104905d92c9a CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a1eda34-7812-4b9b-81e6-01887078a63e CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12efc2ad-3202-4e58-9303-505bbffdcf0e CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e87ea3a-1dcd-4dc7-bd36-8b77fef6dfe5 CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562d82e8-7981-415a-8b29-c11d387608e4 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df69de66-0645-4e01-9976-a596ec3b4d19 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ae4c80-2d6f-4b6f-8605-5f1381290eff CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0450ab94-ea1f-4087-84cd-15cc3498ed1e CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13159965-c4d5-4f96-8556-fe981c9f5524 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7964fc9b-a380-4824-ae77-33844b7b8383 CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdbfa11-6c01-480b-b97c-6d958428af39 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d2a2e85-e34e-42e4-810c-3cfc5f72e0c7 CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e0e311-36c1-4d32-9e94-9adeeca85529 CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d799f54-d1d5-4c23-b824-f7fa980d4d26 CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d92ee31-00e2-4993-9510-64b03f835ef0 CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48ee1ffd-8864-470d-a5a1-3da4a429eaba CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca96f6c8-20bc-4abc-8be2-5d05b45dc2b0 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83f2e361-9397-4e88-b098-dba312b89fa6 CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461ad3a1-3568-4e86-a7d1-7b4475d7f75f CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8787d55f-3bca-40ec-acef-0dcc38141a8d CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978f94f7-5843-4149-ae51-8030ca8c4710 CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71f53bd4-54e3-4b06-8ab4-cac4e6665ace CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3b8172-a3aa-4173-82ee-fb7d862a9fde CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59e99654-d8e5-43cd-b013-86972e3f0b8f CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80f4ce1-a977-46e1-a5a4-bd011d3cc593 CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a977b711-6cf7-4d42-a9ab-b7cf81ce8a4f CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f792f7d-d675-4490-b737-58ad15de66d1 CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2615a3a-950a-448b-9943-8c88697a1bbb CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eaec6d5-42ab-4ed3-9ad4-bf8d66fcaa1b CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c422fc32-e4e4-45b9-9522-7131e6bb0b55 CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da0ebfc-ec82-4b39-ba66-39c294dc671e CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfe05ba0-02f5-4849-bba1-1fe2413fb037 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6ab819-2872-40ec-b932-99ddca1900bd CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dd2bce1-afc7-456e-b55f-0b48d7864561 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415a4fb0-f3af-4085-9e42-f811c689011b CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73738504-a08d-42dc-9437-efd2c40dd1eb CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0066d256-ad58-4a4b-92ec-04156774d371 CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce3fea93-2223-44c3-82c6-7ef44b9107f2 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e9c84f-38ee-41aa-9d90-562aad485511 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 156ffb11-1305-4d45-89bf-8843591429ed CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed487d18-db69-4060-9bc5-0e98cbfc226d CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e444f75b-f0c3-4dae-a833-71839c9a92d7 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce8f6ed-1f8b-4612-93c7-e22b5fca479e CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ec3f68e-8b4b-45dd-96ab-5b0d9f6ab074 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d53b2c-2bf6-4e1f-8f3e-6cf1a2ea6f4c CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 858506fb-eb24-4267-a738-26420e28ec64 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d981f4-6f5a-40c2-8514-0433b08ad9ee CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b98301db-9eec-4b85-ab9b-a24486a474c5 CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37583a1f-2c72-4ac8-b0fb-4850faa61288 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44055d36-3fc0-4a7a-9e77-18270ea4baed CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851d0a74-8ee1-4214-bf1e-8bc34496ce16 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77c01c9a-a642-4301-867c-d39a06d2b11d CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ba4d24-3acc-4456-a8b1-231ad8d046d5 CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b70ab057-080a-403d-8db9-77be490cc09e CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a33d546-dd59-4309-bb6d-2ad342ed5a06 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0e80fa1-8c90-4010-9f1b-3b497a67e1e3 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e7fcfb5-5dda-4638-8f27-801c188817e2 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26839966-ebdf-42cd-bf45-bf358413abeb CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02504a85-34b8-469e-8198-ecc07285f58c CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b093d3e-e3a4-4eff-986a-953dc0820d5d CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b119e43c-f730-42ee-9d6f-8e67b6c7be06 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d79a9c7d-2168-4148-88e7-6b5386f5af5e CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8dee71-2e62-4aa8-b16b-bb0690a65893 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3c252d5-1be6-4bc7-9811-5853a9172c07 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5f019c-3698-41b3-9c43-da6d2ac6dd09 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3feb3266-e604-4594-a25a-e56f3516e062 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72834bf2-4d24-4a2e-9489-4436301eab19 CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06bd9298-e4dd-428b-a0ef-2028e4fc4646 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9361af-4b87-4298-8ac6-d8bdb554022d CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56c1058a-f2ed-4435-a716-521c3f2628fc CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd1e76e0-dada-467e-ac46-97d2b6f7388e CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49bb723e-591c-42f5-b313-d1f23b9912ae CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cfdfc1-dce1-4175-b279-a452ac50625a CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b6f76f8-0dbe-4240-9696-0e84a4058840 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c865aeb4-4441-4c38-bd84-cc33159f9e47 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03579c34-a250-49ec-9ed6-dcb78295a6c2 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eea07123-8332-4f87-b74a-463efe2b8c32 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6109131-b103-446a-95c8-548d14a1955a CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09fa4d0e-c2f3-4511-b0e5-f6718eae5d25 CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ce466fe-84cc-4c09-bb69-ec0c831774e4 CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f510cf84-631d-4590-b11c-1afebb83c78e CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 832d454b-6e16-43ff-a394-aa387e1c8ce6 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78566bd8-3d80-4a13-8e6d-f05eda411f3e CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d63dbf3-2d99-4fda-ac5a-538778a1fa2c CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc72ced-25a7-4c44-af9c-623dd422a922 CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 670f0adc-42cb-47cd-a6d5-26299f2fec19 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b971de94-3367-4715-b91c-a4258d232404 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de47307c-c869-417f-9b05-e2e95e554cf1 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b78eb0-a777-4f22-8ad9-5aedd5783d18 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b066278-0f2f-4476-9bf7-4cd6a657e8d6 CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc38c12-ee93-4ce3-a919-73807dc98ed7 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3917b008-e5a9-44d2-b56c-55457142afb2 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfeb9705-f509-4e8c-8192-08ad0e24401a CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 749da025-a655-4711-b1f7-d550b1f4da97 CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bea0470-a1c2-4622-9a3f-0fddabf4039a CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 114d8851-66d3-4f5d-8d5d-b8771aa78c2a CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66b8472-21b5-4a23-8f42-73f337a293d9 CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d210e8e-5c08-479d-945b-de71e2bddde9 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6979081-25b9-4bfa-bd04-5b1a4fb10771 CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7a87805-cd3b-4472-ae6e-d502cb7cb62d CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffb38ea-5e2d-496d-92aa-f73ef614426d CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d00fa859-dcef-4524-aa9c-cd9646297e97 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b04ebc-5d04-45c8-b5e9-a157e1deca60 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92774e02-9dfd-41fd-82dd-4fcd42a45332 CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24902f50-41d3-4231-80d8-f6686c1cf5e4 CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc9f7612-f38e-42a3-ae05-77b75c33475f CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57108615-60cd-49df-b02a-f26d73d9b6d2 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38c78615-c014-44db-8f4f-7f99f62d9d95 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6ec401-f11b-4509-924c-962cf21afdab CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ad5897f-8cbf-4196-95de-9f6e7d404e82 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d66f510-faac-412d-a5c0-21c15fc958d9 CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3172b4dc-2678-49f4-b43c-822dc2b7801b CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f16a000-eeda-4416-bb4a-76c7fbb73cc0 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f18d4ee-b91c-4768-b314-638c55990e22 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5ae30a-7179-4e7a-a617-6ea5de194a4a CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5470aa7c-674a-4337-a70d-da96cfa34b85 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b2435c-8a39-4135-9197-277e7436bbef CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 228f5709-9cdb-4ac9-865b-9a0ec85dcece CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d666b365-a5fa-4bd1-90ea-5a92cb7854f7 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e8b5668-8bde-4ff5-a49e-6375d88b8daf CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756091e5-b969-4008-904e-167a00c7344e CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f76f3e5-290a-4689-87dd-8e8cec93f0da CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764b6f61-771c-4cc5-ac20-3a9f11dd1ca9 CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e29da31b-24f7-4778-a6aa-35ae01aaea2c CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8677f899-f77c-486a-b9dc-7e318711e060 CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 729efa72-4b55-4b02-a53f-5d89f2aa93d3 CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3129b2f8-a72d-437a-bd72-666ec1eb05f5 CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92d15912-221a-4251-b24f-b98390d24298 CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3e3d66-d396-4e37-8a65-7e95ac88a875 CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9668942d-61a2-4883-9379-5444ba5ed554 CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f75ff9f-b1a3-4d13-bae4-b2218422850a CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fd4f0f2-0f18-4977-a227-af593be98fc3 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852b4abb-baea-4bf0-8d3b-83a84807b42b CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 543b28ed-f8a9-4d22-9959-72d532ddc54f CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd9c71f-27e9-446e-a368-66be693aeea1 CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b38d822-d210-453c-b75c-034885a3576c CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9180b2f-779a-49a0-8adf-a95103b05deb CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a22aaad4-958d-46e2-840a-31e515987e89 CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb317c8-74b2-4633-af9b-049993237387 CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b24d90e-f94f-4163-afce-d99f9e3b16d4 CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c30147-f580-4dcb-aa3a-6c9fdece5d8f CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9dfbd8f1-d98c-4f9b-9a71-5c52a977a2e4 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a3dfed-1cb9-4599-90e8-53b1b7db5b4f CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8e94b32-bfa3-4771-b9ac-6c58f7e51c36 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2466dc68-983b-471a-95f5-ca57b978782d CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deba25d4-058c-4d56-8272-244845b3534b CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5512ea8-1820-4d60-bb41-7a0b323e19f8 CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f67ee038-7b5b-4b60-aa63-4d3cdaddd779 CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838d3c5d-ee02-4a8d-a9b6-95a60888d3e3 CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ce8cbf3-d39c-4b84-b634-e85f15f646b0 CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc2e166-2bf6-42d4-8d01-241d6aee7ec6 CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a3e399a-5e2e-4e94-add0-22eb0c3cbd8e CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f66ed8-af37-4663-ab86-451141ef18a8 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01b934bb-d802-44c9-af4e-6a7ef3d62a9e CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dbd50d9-6d21-44ec-9922-3e632e9637c6 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4929ed44-b0c8-4bc7-b9fc-f473dee669a7 CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f626449-14a0-4779-adeb-693818ebc13d CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae50a7c6-611a-4870-8ac0-421c7eba3720 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391c641d-72d7-46ad-8bf1-de84f059166d CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7920288e-3e8c-460d-b7bc-3f77d67adfe9 CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea935fe-0c7c-4999-b29d-26b017ba56a6 CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6c3b639-39ba-460f-922c-75690f6746af CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e551ed2a-7b73-47ed-9b4a-54bff9f3e95f CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66e2f38d-7f0d-4f2c-b261-619a65315302 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316b8918-1831-4a54-a8ae-2d3346fcc732 CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f44f09-008f-4dda-a4c3-558ce3a0d7b6 CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3228e9-cd82-40c9-9ef3-15fff80f3f91 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1a86a3-c793-4a65-8bea-c9ee8a2e4e7b CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa29387f-cf83-490b-8f1b-202432e2282f CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8491071-08fa-458a-92e2-92e53f690fcc CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd75ec2-3903-46de-9981-c6a702c2a161 CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 311d555d-6198-441d-8209-fdbae9901a59 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca4d884-75b7-426b-a0a1-d0dfac8054f6 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9487a7b6-37ac-4f4f-9178-4ebb70e13475 CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a21700-d457-468b-844c-2c007a7367a8 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfb69f24-c137-46e1-823c-a63a9f632516 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfdffff-0403-4269-9902-511cff87bf8f CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7a78830-4bf9-4d07-a5d1-66eb401bd07c CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb3cbdf-e950-4bae-bf70-e1bb41689c85 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f66ea865-e489-4159-9873-8770f2962420 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f91ba0a-74db-4461-b9e0-ef1c8271766d CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fce364e6-e164-45b3-b97c-2596d7bd8ac1 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3ac29b-34be-429a-9b3d-117400723e55 CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e0dd60b-3eb0-4cc3-bcc2-53a67836ec0c CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712489d8-a958-4dbc-9d0a-a2ccdc41faa8 CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe4bdbe8-8a76-404f-8013-6f1a5ddcc281 CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47db5ab8-cd91-4113-89b9-31501cc34be9 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ca02c89-e9a3-411b-a795-579d65cd6371 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dac6f7-1ab6-4f3f-a0bb-44923d835e6b CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 696ed11c-8c2f-4ec1-b522-c4952308f9a0 CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26224d2e-2e59-4b76-9107-5cde78ff3d7f CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f502626-48e1-4f55-8a56-99293f33056f CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ce92a2-8463-40e5-9da5-ae4c990870c3 CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a31ff75f-28ed-4111-b7a8-5254e7b4742f CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f2c4e18-fbe5-47d7-bbb8-223ddc3a8cc0 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b21fbcd1-310b-402b-8892-0c1583731c47 CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0143acd-842f-4a56-9171-11c05cf62191 CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f42682d-1bbe-458d-8271-f612ccdccaf0 CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee0a5c2-f07d-4e9f-8fc6-b0f3a9e8a5ae CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c6ce076-1a20-4706-bd46-ef343c95daf9 CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6025ef81-e6ef-49bb-96cd-039308be479c CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6862ddec-4436-480f-8c78-0fa457365097 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c537aa60-90c0-4f45-98ed-3d9028c8984f CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbf52e8f-c869-4f22-8d9f-8ede067dc5b1 CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817b63be-7f77-4363-9377-e23ef9ffc833 CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a957c17-c9f6-4b1b-9639-02b2fef708eb CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb1d717-f1e9-4791-bcfd-fd304dae2602 CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c29f8324-aefe-429f-a40f-c34eea7e3844 CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa1ddba-9417-4ce2-bfd6-6d29e6492cc0 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9251b2c2-8fbb-4fe6-8dba-a5f58e1a34c8 CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02a1006-5467-4fb6-9f5f-d425dcac882c CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fb4b89f-2df0-46a1-9131-c52191271e20 CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c454aa-7b33-45e0-bf5c-93641ab3caa1 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 087e548f-bb36-47bb-9129-01daf2b48852 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f9ef15-5e98-4ee7-957c-76375df40b19 CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88516724-6504-4644-911f-d0799e891d42 CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d005d1-09e9-4264-8c77-5f981256a2ad CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ed63626-dd3d-48ee-9223-aba0dc5a6b61 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a851fcc3-bf72-4742-a6b0-8dee87887597 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43444fc3-4019-47b6-a70b-863c1a64a3ae CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c900c88-22dd-4223-83ed-65eb6b32ae24 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eacdf41b-5dac-4772-ac56-e75afb015577 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a7f484-31e2-468d-9bcd-a9e0d1811975 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dc9565a-656f-496c-9541-f4850f80ad5d CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578d3a98-6b2d-463f-b4f2-081117d271d2 CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55b4c9bf-2340-4c46-85ce-bd9adaa6413b CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5407e5-aa69-497e-ad85-d6d3da0cb3ae CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4737547d-e268-4ada-a4a0-d2872679e3fd CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac14a99-b139-47cb-a05c-ea4585c80765 CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd7be50a-588c-4672-a938-7fdd6b716c09 CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb13ab6c-26d6-47d5-8f73-588bb5ead92d CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5ac8baf-e9ee-4f15-92d8-0a5848eca8c3 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88c8297-532b-45d2-949a-e48b8138253d CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71ee6e1b-f61e-46b4-b102-a2ed035cfdd6 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 093e4240-f640-46cc-8f67-3b48bfe0061e CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38fd531c-404a-4e39-9d71-6bbd2628543e CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bed0479-ea76-4573-bd62-9f7741c2c86e CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0ca1589-bd13-4e45-aab8-fa427f35d29d CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33155a3-5380-4395-9d04-8312b8543c2f CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3116bce-928f-43a7-bb82-4d3b5bf11a81 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d084d754-0d93-403d-b8ed-b82a439afa99 CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29cbf0b4-f68e-4bad-8a12-5d9ac1fde718 CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8481c405-3b5f-42a0-89c5-27787bab4a2b CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44e2bc7f-1620-440e-9d76-428f0c263826 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5498506f-2cb1-4061-8c0f-2ab15be31698 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a30ec1e-6521-44f7-918e-c540d311c179 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2fdea3-d9a2-4921-ba18-301f0b316283 CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41efe9cd-e5f1-4f8c-90b6-ce90046a1982 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd7c2f2-14df-48e9-ba65-a42d166ed8c9 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99e08ffe-d860-4e9c-b37a-9d1fc934b931 CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5df43da-8c11-46e3-9300-d361d0b8ce09 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef677d50-fd9f-4ff3-8f18-76daa7c29f0a CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86971d07-a03d-4b2d-875e-a5587007e5cb CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abc840f7-1b34-46d1-83c3-cfd0fdee2e8c CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017e1d5d-df8b-419f-a562-c7bb74748617 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5ae8e31-bf20-4872-8d29-483669f00e37 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc7d642-2dcf-488e-bbc5-6ce80df1f79b CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9394d109-f8c7-4d2c-a6a0-487172514269 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3836b2-2521-43e5-a0c0-8fd203ac40c4 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7ad72a4-fd4d-4ca8-bdc7-ba716b35f6bc CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846cf7d2-c2cd-4794-b698-f40f0ea5c440 CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5adde46-1b7a-42ef-8c70-7a7f9bc0a44a CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99d0d60-9446-4c1c-bd42-2038a93ebf3a CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 924b90a8-00e6-48ab-a567-48133966d2d0 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff20ec82-bb5b-44ba-a59d-a0f0b761793b CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de379903-b523-472b-9cf4-f7b904365775 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c208f6-c58a-4858-bdf6-153a18e8c472 CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76af9df0-d377-4622-a8e1-9d57f7244a28 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa44850-fa0a-4a9a-b360-30c0a3db556b CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aade708-c6f6-45fc-bce4-449acf17a1b8 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9230a120-cca6-42a1-bee9-e28f8cb6aef5 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e5aaade-93dd-420f-b53f-e1178cbdc6ea CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce970b2-f18e-496e-aa65-f2db102f14d5 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54eb0a3-e586-4e5a-8e95-5f161f857724 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb927c2-1c1d-4ec2-8b9b-5dea4275aa96 CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9e9fd0f-7739-46c2-8258-3e3bd260c8d4 CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0d6971-8f1e-49c4-b295-d0d81da720d7 CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c6eb15-d458-4584-90ca-33285b15e1a4 CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09370b31-9121-46c1-96f8-32b8917d3559 CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c5b2f87-bafe-4c7c-9993-0d783ea45a54 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed7ba38-a459-4fcd-9265-3330d638838f CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cd4bbea-1fef-4b6e-adb0-7059440b2903 CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d615f35-07b9-43a8-bfe7-e9ef3387d6a2 CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21a90966-a543-448d-931e-0d8d823c2c8b CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7ec269-1793-4e49-8be6-70b24e4779c0 CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b04f9a8-3bd8-4d95-8dfb-124ac12f1b6f CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba8e2f8-85cd-4344-b5ea-0f226b76a9fd CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac8c3f28-7930-4eee-9c00-07ec26bb0b27 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12ea2c1-5c41-47c5-83c4-4ca56229c984 CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc323e75-e1bd-4d2b-81c1-55249e8f1b4b CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af48cc2a-2a9a-4e72-9c86-8649235c975e CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc79ec3a-eecd-4aaa-bef5-deec3d73a2cf CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af5c251-f596-4014-82c5-f28513b55b45 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b057348d-02b5-4d62-b4b0-9f4e2e4e0cf1 CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b25081-57da-4ad0-88fb-6ea27cc481da CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13db4089-5cb7-4002-8b9f-7946174c6e01 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f557759b-411d-4af5-9003-56d33dd18b63 CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9318cc1-c605-4fac-870a-c23b9efafc13 CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def2d334-7755-41eb-a65e-bc283b6af1a3 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2b8cd82-6ffc-47a9-9947-8961f28c38ff CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a19cef2-bdbd-4ba0-ba89-4d32ebd3984f CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e245a5d-a96b-4291-b276-3aaa93922ff9 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6023053-a393-454c-ac76-8199617dc582 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eadccb2-0a58-4baf-b31d-f3a32f321322 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec36c706-fe67-4859-9c22-3c4efa185f5a CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63a41a27-01ad-4fa0-b65f-da47ab575e91 CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c69398-1515-46bd-b730-b4e686083802 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec717c88-71dc-4c84-bef8-d228aea0ff2f CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73a109e-4e78-415b-bc06-85a8101e060c CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0915058c-74f6-452b-9af3-807983b6a1a9 CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601ec9f4-8bb1-4a00-a4a7-f49624ae167b CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5582610-c712-4456-a066-bc7352fb7ef8 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dbd06e2-05e2-4e58-be23-2479a4a665f0 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1170de2-43da-478f-b224-bb15a9bce5a0 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be2d162-d968-43ec-bc67-5bafbd9244ec CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16424efc-a473-4103-8bc9-f07d7801738a CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce35c5d-fa91-4480-a5b7-b3abbbb88278 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdd998ad-1630-428a-93f8-305b6c288889 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495a11d5-5314-44cf-8f97-949f5f3c425e CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c82ed161-7a24-4eed-9ee5-f897d53e657d CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55234009-b664-4fc3-9751-c0782cde3594 CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dc2b8f0-d8e8-43c9-95cf-c1825fe35efb CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75277d91-0626-494b-8bd4-5e5220aa164e CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634d941f-fc20-4783-b67d-5932c896dd95 CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ae2242-714c-4c0e-ad11-6932761de624 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 936ed2ce-22f0-43b4-a258-e02c32ccb1fc CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e590f40-fd3d-4dc6-8698-e16f5de2691e CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe26c244-9954-417d-b4e6-c684faa06335 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464ed6f3-943c-40cd-9d52-04bdc5399abc CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 238df887-9fd8-404a-bd07-ade7a95ff10b CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a087e3a-2f6d-4455-b71f-4e5115fe41bf CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1bea9f3-28de-4d5f-a6e4-aff563580ede CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc762b7-279b-489d-b226-e9021504ca8b CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 836a51ec-d922-4036-ac26-bf2a79295f2e CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59f75c5-bdf5-40e8-ab7f-efa1583bbaf2 CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acbf067b-70f5-4fb3-bd2a-745be47d6ee9 CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53338f1-3be5-40b4-8c6a-48516c69446a CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b13b5e76-2412-4646-847d-31bc4309d755 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be585321-0041-47b4-8e7c-05551d5ea87b CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a2a42e8-03ef-4c7c-a628-d22bdb612b7a CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5742224b-af2a-400c-a5ed-322188baf0a8 CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fd664a7-e0f3-4f04-9c50-f82a3768f4d7 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a30150-3869-458a-93ca-5b3150a660a5 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f5e8a33-513e-455f-99db-6c17c65ceb52 CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccb7853-ace3-4dd4-beab-a3fd55f86b09 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afe8a710-8e72-4fa0-a20b-e099c7459a42 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb3f7f88-8793-4d71-87df-c6b934fb748c CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e60be709-2a79-4bdc-8a20-295fe8150fb8 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2acdb75a-a314-4d49-b061-08d8a32b28dd CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e33d447-4328-4995-a229-2c4f12f90327 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63553085-71e9-4369-ad0e-e624794ca2d2 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dab751a0-3f58-40fe-985f-f3608d1a1a8f CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a71b785-52a2-4020-bac2-29d9592161b1 CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c14d3d2b-fcd9-4c21-b923-e1bda3f85eb4 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79caf7e-bfda-4c71-9c94-735352e223ad CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4850fe9-bb72-4446-9e22-4bacc390f103 CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f4164b6-570a-4d25-b83c-9a6f4868043b CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33f1a960-b9d6-4bf4-838b-21461e5ae789 CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97fd142-3e73-445d-8ff9-ca46a6a726ad CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a6dc21a-d77a-4532-8073-3b5ee2b61ce1 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a309721d-0cfc-4af0-9e0c-e7d6a55b9086 CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7b11fc7-1384-48c8-8c75-fdd67a022c9c CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43fd198c-40a1-48c2-9f7d-c886ec22a5be CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5248c2ba-b566-437e-9c06-da741ee230da CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab290bfd-a0a2-46aa-a2d5-2a755c464701 CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d31ee0a1-9d13-4373-97ae-01f9a71717e1 CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e1a91c-e095-4e1c-97d4-ec7e38e38711 CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78fda47b-226b-45a4-b9a0-be97d6cab883 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a7df44-092b-4f03-836b-e3a14c89ce97 CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ed35c2-0cba-4489-aba9-02ff96962a25 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b472803-6ead-453e-aec2-5b92a687ec7d CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16dd8a91-410a-4386-b0a2-e69529c0386f CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af45b91-609a-4f2e-a2cd-28606390bbbc CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 413b1fa8-ec59-476f-b81d-269f2ad6ef30 CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b33c214-120f-4c14-91a8-8405aaffa22b CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e847138c-8020-4f11-a81a-878983199b5b CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d580f391-9886-463e-a99c-5e1823360668 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a58cf43-ba29-4f56-8988-efbc97b7bcc6 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47632ed8-8730-4de7-9576-b63c1315ee9c CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28f53e3e-668d-4e8f-8edd-c03dafb7129c CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a152cc62-eb36-440c-849e-bd7ed5a45a35 CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95c897e1-8a83-4911-8427-05f3602b5e34 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18320bbe-816d-4450-b6e3-62c47757d9cd CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 683ea998-199c-4e40-81a1-c8ab58bd1ffc CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3e976c-f453-4bd9-be0c-fbeea3c21e0f CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c273f586-034f-493a-8643-d8cf5ebfcb14 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3dca4f-46e5-47b9-bfaa-c8293d75337d CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a74b961-0715-4598-a576-38f0a5aad489 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3c501e-0802-4bc0-b532-a5c4df00e309 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76aeff38-9e12-4c26-885f-60a80bc28ce0 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42419a08-0664-4c5c-b0ea-9a771c5e42bd CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce55e77f-73a3-4f6c-b78c-111ba2cb5c3f CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c658d31-16e4-48de-8500-1f98dcfc1f6e CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a82127d-472d-4654-83c3-1281f0eaf876 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc2aba3-adb8-47f9-a4ac-38d8835ef2e3 CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7035864e-d37e-4f70-a9d6-efffd0ca598f CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77be45a-c4f1-4eb7-9980-ce430c36ac86 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d6fb2e-a0bc-45fb-ac00-365ddb4cb412 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7617c62a-b9ab-4763-b05b-ca686b8d03eb CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 684cf28a-1579-4be3-afd6-2e19bf97fb92 CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2596bfc0-761c-4fed-904d-b8b22d0238be CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8e11d2f-4b68-41e1-9f5b-3837bd39a5f1 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9c622c-ab2e-4bdd-a917-92b0b2d0cc22 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5b98084-fe1a-4a14-98cd-a060f3e1a8b3 CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771385b1-a2a1-4528-a5ef-5d31d11119f1 CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e066180-8755-4146-a987-271d360dcdef CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 818a9fba-1a4f-4e26-9b20-08efd176a06b CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2eb70e3-b69a-4d06-99fe-91e6d552215f CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f3b6b5-efcd-4e06-bdc3-10bafc5af8b2 CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea0c306f-8309-453e-9b3a-1a9675a477d2 CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907ee606-eab3-4c8e-97c2-7faed3b7afb2 CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 579e680f-d546-4ce9-b365-edbd562c9584 CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1412727-ec83-4373-a899-01ab0ca84edc CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7463cd5e-b655-496f-81bb-7c11b4b2c5ca CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bc4b48-4c9d-4a9c-a4eb-c33c779f7936 CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a52a179a-e86b-4caa-9a9d-ec12bb9f5280 CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9c5f7e-5058-4cc3-b931-5ebc0c675639 CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be3e45a3-0a96-4c75-915b-0efa8da730bf CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94817b04-19cf-4b55-a8f7-2833b5daf3a9 CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ff7f0bc-6296-4c23-b194-c8c930f8982b CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21faa2e1-8217-4fdb-a4fe-c965bf8da2d6 CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 910df41c-c1a4-4b5a-9699-46bc5f152151 CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9361d1ce-67e3-4fdc-8b69-6007b4ecdaeb CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb3205aa-f8c4-4a59-9ea5-8b3db25dea30 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bc5ca9-638a-4cdf-bf9f-c8da3094731c CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c05ac033-aef8-4a6a-b4a2-ea56e8b7b195 CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c49ad2-165a-4cfb-b708-8014929581dd CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc26b388-dd9d-4ee1-b985-7bf241a18d13 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f252e4-0c93-4c9e-b89a-31dadb7df575 CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d7046da-8d4a-4003-bcc4-59ff647d97e0 CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b21608d-d326-4adc-bf8f-128084641df9 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c69bc73d-9f83-40a5-b02a-93b5127ce24d CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661ec8ca-72fe-4554-96e9-ded9e3b398cd CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a87ba4d-9b73-4403-b5ff-99f81fa97e08 CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee73d01-de7e-4d9e-8b41-5d3eb473fb4b CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ad80a04-4bac-4ffa-b086-8a255d8689d9 CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52b4da1-4411-4bf5-8ffa-b0a021bf4f85 CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f77f25b-a136-43c7-a39c-6e52dde80ecc CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0940ac1d-c1cb-4336-8904-0819dcce46af CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50f22639-72e1-4725-bdec-0c4668649e3e CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53b84b8-8989-4b39-9d1b-3566366f2968 CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 313c9a95-d8c0-4445-9f2b-533e2d55ee94 CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cc20b6-e013-4f86-a0a0-7428cebc4244 CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f4fe20c-5f24-4db1-95c8-76082bd22627 CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3da9da-13fd-46aa-8235-50c25c194b41 CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26cf50e6-12cf-4807-8b83-d162c2a66ad7 CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 671f86be-5ffb-409e-bf00-3edeba376975 CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 962e533a-c993-4922-b6ed-e954cebb7fed CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1036d1d0-506b-441e-8dd6-65cb495ef9c8 CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6e8bdc4-244a-4181-a3a5-04b1f6c98c0c CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7dace7-ce0f-4782-ab39-108ab2e0b406 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bcbab9-745b-4964-91c1-c72413dea2fb CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae02fd07-f95f-4056-9315-7d4c4ffaa4da CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d256699-8e52-40fd-851e-0a1539980959 CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2989de-e936-457a-89bc-2e7eae85b488 CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1a9d402-c588-4750-8f52-2dcfdaf4eede CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfb7963-1a4f-4258-8fe9-265279735e13 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42be4b07-6cb9-44f1-9e29-eaa5e993f598 CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13fd5b9-20c2-4753-93ff-b08d150842ac CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a5c0c1-4d43-4aa4-8612-daa2506f325e CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7806710f-5583-4d38-a25a-937f69d2a50c CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1662d7e5-17d4-4348-a065-ff2b86e5d80b CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735104c4-726f-4973-8edb-2b429927c67a CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1dd1fe8-9d29-42c3-9db6-3762edd4561e CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d94173c-0d8f-4766-a85c-8dc60a4e7c0d CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ff2f10c-e665-4c7d-8d58-295375e8d7a2 CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40a3a8e-5f48-4ca0-9b0a-76b2bbfdfd72 CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48475b60-1afb-42a6-9876-a9f7c55ccc5c CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0737a46e-1acf-4c56-907b-4cab13a10248 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f87e9a1-ac47-4c9c-bb5b-a45c6300e695 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c837e7b-cdf3-4e14-b84f-f2c323c0d8ac CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b840e410-1bfb-43d2-afa9-6ebe9497e8c0 CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8765ac7d-2cb7-401a-b1fc-2de2eb18bc3f CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40473ebc-75c4-4b8f-bc08-49cc0fbdc513 CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5201f1a3-43e4-4224-a0d9-307ed8f6015a CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34b7610f-35c2-4059-b34f-5aeaae6e127a CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023fa08a-e9f1-43aa-8263-c53508dc2334 CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c8b1f50-2425-4504-a0d3-b5ecf8fff8d5 CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5bb2ff-5edf-4897-923e-d1ab964c91a3 CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7370bfad-2618-48e6-8464-49ba7fa6652b CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47560e5-578b-4e6d-a887-1fc54e945c0b CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ee20cbb-79ef-4cb9-8730-2e54a0591261 CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94731f5-9ca7-4f5c-b0a5-3062b5678965 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 150346db-74d4-4fc6-a77e-64ebe00893fe CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3c5022-630e-427f-80a1-f310225f2cda CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15c33f3c-7f75-4dbb-aff4-4a1e3feb8d30 CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a889da3b-e2a6-48c3-b971-01edf1ddcac4 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51f4010c-0623-4780-b7af-a63fc861bfd5 CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964c57f6-e731-42dd-a7f5-42dacd907467 CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0714e76-ec3e-451b-a63f-30e3864ba3e9 CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860050ec-b0ea-471c-a197-a411d43f5b47 CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdb52c96-2f39-44cd-b060-730ed6c8326d CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b41a87-5d31-44de-8faa-3f9cacdbd286 CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbcccf89-9df2-4dc2-8bc0-1492ba3122df CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ba8aa0-d819-453d-bf54-fb657be59ed6 CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0ff2a47-505b-493b-a972-5769801929fd CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbc3fd2-1fc4-4e6e-bf93-64eebf266f37 CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b39f6453-9932-479a-97ae-f1d07c93a3a6 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50f0bd7-5c20-4d56-a795-88bad9970648 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94708c84-6e5c-42ba-b8d4-cf6154bc6880 CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276eb090-8f19-4123-a784-659a81c97d64 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bad36ac6-8c6f-463a-b90a-baf9e36860c8 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a38265-efc8-4c14-9c33-4f8982dd171d CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96736a19-aeac-4ae1-9ca4-7e87ad3da2c3 CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d831121-d956-425e-b1a5-c1b4b45f6a1b CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ca337e8-143c-4a99-ab45-b69e99913198 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31126567-abcd-430e-af68-f4d844528f48 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4500f9da-f5b8-4f79-ad83-0e61f9ee73a7 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ceb4a2d-0d0a-42f7-a95a-4ac3667829a8 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 995e2d04-105c-4d4f-ba9c-a04933fd335d CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c7cbd6-e8fa-4082-860e-be7d261f9b84 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d19000c6-185d-4bc4-ad35-484bcd452a09 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da199a6-e221-455b-97e5-575fa11708f7 CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971b7579-cc53-4273-8a8f-cd1fbfebd1d4 CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf03224-eba6-4154-9772-e1ce1e721353 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2bc76c5-b31c-4543-a560-32dfd6292833 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb02498-1de2-4c53-a529-a591ffc9558f CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e80e9ad0-33e1-4650-bc43-d38a0ac18d0e CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f69b64-82af-4313-aee9-d1925e2de116 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1508dd0f-f077-41ba-b00b-cd369b2b5fe4 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a8986f-dbef-4cf8-81ac-cae9d80a40dc CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d38b7096-cf80-429c-b70f-d894e2795003 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1403e4db-27ae-4210-a250-48473216a6a2 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afacf865-6883-4062-828b-4037d0a6f87b CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821b25ec-373c-4a85-9301-e9400754210b CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d5e6874-e1ab-4744-b8b8-e470ff38c8f8 CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576e7ce8-da99-4b21-a94c-659b11fea1c6 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62ab6047-c5d2-42e9-8a20-29b4d73dae6c CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba88c98-fb38-4117-909e-37930d389c84 CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afac250c-ba56-4325-8e8e-653f376f70c4 CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fa872a-88e6-4804-bcd3-58148dd4498a CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e8e0944-38f4-4f55-ae2c-2d3c4d05f7cd CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d05c161-8df4-4887-8d4b-c14489a8f51d CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473b1490-dc4b-467b-a379-28fbb3bbb3fa CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b566fd1-8ae1-46c0-9856-e0aa969efaae CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 256feccf-845f-499b-9de0-768112ebbecf CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af32f02-59f9-4f84-bf28-cbbcc55d6aae CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc60bfde-dd05-4845-a942-0c968ba9f005 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd8f2f2-51c4-40fc-b342-80f73d2eef98 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fcfbdb5-45ac-4c26-9073-fddd19966f33 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb14ee8-4a7d-4ad6-9147-86e192894d9d CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf52d51c-1b89-46e1-b1c0-24b27b507d3e CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb11d5c2-bed6-4c8c-9f31-7b993ea19b74 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1f34a37-a8fe-44fc-9003-7f12386b778b CLINVAR:1334143 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c6a493-30ed-4e70-a8d8-3f6a94e2d8e0 CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5497373-0287-4605-84e2-6967b7ba8093 CLINVAR:1334144 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4880b10a-270f-40c4-89f5-eb48d52ef050 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb1fe37f-e881-40e5-aef1-93d99a84d9d8 CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b612b03-8d9d-424a-95c4-218922b09c1d CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56955b27-52be-4503-92c4-bccc48277ee2 CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d66debe-a92a-4ad7-9c90-dd05f4d2404e CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcbbb68a-07e5-4545-a232-ece5dc60879b CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26e6bc9-2f54-4376-a16f-37af604b4c47 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a71d40ce-684b-476b-ab3e-07791ea7fb3f CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2de4fc0-51dd-4c9c-a4c1-9beb6655cd4b CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9932a647-9e85-49e2-9b09-41af431046df CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7135f97-c578-47bf-8bad-ad3cc76190b2 CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1f60a58-4c36-4ea0-9b46-47e66f7b298b CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f999427-aa15-4247-8044-1ef05574398a CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3b7c828-f23d-45e5-a108-de9487dfe464 CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e0653f-5d2d-4fcc-adac-5711f2ca1ab0 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97e1ed33-88a6-49b8-bb92-801bcc84b486 CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8ed37a-3a27-4959-bae3-8d1803189eb3 CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c62f150-01c4-4e31-847b-ed21bc81a99b CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc24c7c6-0c06-42c9-9123-a2a8e4f56919 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55f73e52-fdea-4c07-aa24-3916b7835be7 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa207cc-9679-4582-a040-60484bd328ce CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22339287-ccca-4ad6-b11e-0a073678301a CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aed9f81-891d-445f-95f4-667500fc3327 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cebef97-5e94-4bde-b242-428e0ece2c69 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d721f5fa-d9c0-4be1-9655-538016d07312 CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcfb3a3e-3020-4c1b-ae18-42a85373cc54 CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f7571e-344c-4e64-8223-e90aa5c3d490 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 034a15e2-15e6-4a8c-a167-3f4bd3b4e5e9 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f035eed5-cbed-48b5-9432-faebf5256d33 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71a40b49-af06-46a6-a16b-3db649674686 CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20effde8-4a6d-414d-99ab-4349b96ac34d CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62eb4131-ddb5-4a43-9f0e-1a0a897a7462 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c343489a-6c24-44d8-b782-e2048e962c3e CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405e39c9-4b94-4805-b54a-89869ab865f3 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46360fa8-0598-4996-90d2-f839b2507365 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d234aec5-ed9b-456e-b745-374db8610139 CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfc4ad1-f1af-4c8b-a4c1-6f3a71dd2201 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 006634ae-c45e-47ce-a31d-0efb5cc519fe CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71cda409-0f55-456a-9439-848c1ca23097 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a377de71-3e59-4220-a935-de204f3be7ae CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d493e1ae-2c6a-4026-851d-794e4efc7cbd CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31c8172a-789c-4a3e-bed3-cba94e639e0c CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7992bd-79eb-4656-8f63-30266132d0c6 CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4510821f-2b2c-4a8a-83de-482c6fb5ac1c CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0c05ad-dfb1-440a-ad0d-31529e9d5bee CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f46d83f2-1f93-4adc-a7f9-588ce332e474 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9170096-e07e-4da2-9f75-aaf0d31fb75d CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b11c4f4-fa7d-4a6d-92a5-32a36a149aea CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed6ddf9-33cb-49ae-b7ce-97249f6d84cf CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a5632d4-972e-400f-ac6e-c58848e1ff23 CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5d6bfe-370c-42fe-9804-55db0f28bef9 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b1bbe01-f5aa-4ac1-bbe2-f8edd7e46f1c CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b702bb8f-f8ff-43d9-a53c-d389388cb454 CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65ff354f-f7e6-421d-979d-598bce0c21ae CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7106e491-2e48-49d7-ad66-b4d7cf4c2ed8 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3dbb67f-fda4-49da-9cee-fb03d101ba75 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a01cf3-affd-42d0-97a7-22eb682db765 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2db5664e-bc76-455a-8e24-b62558fe65fc CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd60323-b53c-40ff-afed-33d6e5f7e3b0 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc423b6f-da0e-40a7-90b4-c261fc600fd5 CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d7a61b-fba9-45da-a03d-49237aea5919 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b056b7a-2774-4f1f-8976-9fed3ea432b6 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb324ddd-3394-4b90-971a-6ee79c4c8351 CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51474db8-e54f-4e1d-bdb7-a35fe7f83fbb CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d781f5bc-a4b5-4b6c-a0e1-134f3df4b8de CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe533fc8-602c-467a-937a-56c116b8bb8b CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d461249c-47f5-491b-8b0d-c682e2d12ded CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3a4e257-7644-444b-8e3c-2b64b5f12393 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142f2fea-313c-4455-b3a9-d9a2deecf57d CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c247df56-ea01-475b-af4b-60ebb02e02a8 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c13a77-8bf9-443b-bdf4-10f9117ad4af CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86e2c378-92f1-4fb0-a2e5-00afed48ac50 CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbaa111-462b-4be9-9e28-ecf83e009371 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 872ce2af-b35f-4de5-9117-7ae32420b006 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d8255a-b6b2-443d-92b1-a3dbb08dbe62 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0029a9dc-3e4c-4793-8037-5e265899c44e CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bddbd3c5-eed9-4fbe-91fb-765661826e36 CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a6df9c9-fe8d-4197-bb93-04ba62dd600a CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626a78da-44c4-498d-8f98-451055364911 CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 187028c7-42d6-4d5b-a782-3014f99bbdee CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73b10b3-7789-447c-a8b6-caa67c4e92b5 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efe7034f-52d2-4557-ae0b-f833d4adfd96 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a95236b-180d-4fbe-b8a2-4ca1c4666970 CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4bd6a58-4920-49fd-b0c8-5d9d318d5554 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfa3454-62bf-4879-be3e-b52631576355 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3313e844-a3f6-4419-aa7b-068d267f0e93 CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921345e1-1648-4b08-af03-4d644902ef4f CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ffaa3e2-58a4-4baa-95ad-76fb034b3fa1 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45ee788-0f45-42de-a005-7af4c8fde578 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a736b46-8ece-47be-9f87-edbd7b351b62 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8c2889-6aaa-49d1-a32e-c03c37f918e0 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac863239-e787-46a0-9132-68330118e741 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd1f7b39-cc6f-43a5-b112-d77803e6bccf CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82bbcf6a-8da2-41de-8fb4-c40fcbc4820b CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701a93df-8e2c-40ca-9acb-b31c15f9a280 CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8842bb4-edaf-48c5-9b94-69f1b2ed09a9 CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2310b838-bdbc-422e-a5a2-2a815648ab53 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4693384-387f-42a5-80b3-cedf3a060c89 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03799e8f-11b8-469f-b0c7-51ba053bb7b5 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9baa440-2fa8-4445-9a8e-8398c9c3145b CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8006b96-bab3-4008-a598-5290a455f7f5 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 224967a4-a679-40c9-8757-35b126e027ff CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222a4b78-eede-4341-bb40-3cc5994a3949 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 519aec93-dedb-4ad7-b72f-acfd2351ab25 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7a59f2-542a-4f65-a41d-ea7ca22e34d2 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df1c4277-b06d-4817-8747-e07264cae8e2 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc41ce6e-48be-4608-8717-6346b9bdeb63 CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2621190b-92b6-4ac5-a24d-123014e0b01c CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fb7ecb-a806-444a-b8a8-25779c6d49c6 CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 805516a8-8b89-44c3-805c-62c7ed800c59 CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee7615d-ee93-4a92-b762-ddf9d36af725 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff65039f-bce0-4968-aea9-159f6c0ea9fa CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72af9fe1-035b-488d-a03d-74c92ad8fec7 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 823a9c8a-aff1-4a32-a712-56352babcc46 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b506a0-8bcf-4b37-b73d-c7f129f40443 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4248ac2b-a344-4aa2-9b76-9f9d8dd2d2aa CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1a566f-d8b2-4dad-ae14-e068a5b6bd25 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 385443b7-38c1-417a-9b90-6fd942936ee2 CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159a4ac7-3e77-45ab-9bee-eb535db3806b CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dc0f68d-7a9a-4aa5-9394-dbc27b475e65 CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc365075-ae39-4470-b46f-cd7435c128bf CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17282f83-8e6d-445d-9674-ff71b1a941f3 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1ca85a-3a05-4f4f-8386-79ff913cd4ba CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 104323b1-770a-4b5e-afc5-c258a949ba95 CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9156084-e3d7-470d-bff0-0daaf6de1805 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97e12dda-7a53-496c-b5b0-f00d524c5251 CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d8012b-3b2c-4e90-9312-3752b8e01342 CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32ea5ae0-558f-40a1-8192-74dea1449fdd CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97c64c5-0819-44ef-b41c-003adca54a17 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2738b255-25f0-44b4-9278-d800192b5c4e CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb48e5f2-d589-4fe3-ad49-d8558434b13b CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aea9f64c-9d4d-445e-a4aa-6773f4b54279 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02bd3714-abb8-4d81-b38e-4107376b5a05 CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10b917fb-049a-41a9-81f7-eea4a78bf974 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82e3b07-6e1d-4f05-a335-d77b2b5ce179 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 654c72c5-da02-462e-93d4-48c33a0ac587 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e422d0-675c-4acf-8bc9-5ef8ee150ba1 CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46b83e2d-1fe9-4a69-b319-20d77c1960d3 CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53afeff0-b46a-49bd-a812-d6ec309d3c6f CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94d665d7-3d23-4121-bfaa-f08c2a722805 CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04009114-1c4b-4e53-9b1b-1448b073e0cb CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15909c26-a2a6-4197-8d2f-579590bc6341 CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eac3873-5d04-46bb-96ac-a2356a56cf27 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3fef8e1-3523-4f33-94df-99524d7e39fe CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d7fdc4-5688-4cec-b557-d52143195a3d CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dd4065e-e270-49d0-9f8c-ae32e94a6f9a CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c46471-bf7e-4470-942e-91bd0c76e846 CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64922be7-0949-43b6-a907-4d6a847e1a09 CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f9190a-0336-403f-8a85-ffcc2dd525be CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 002024b2-dbb3-464b-9b77-6d49319a0f0d CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e30376-4bee-496c-be02-8cab06b9b715 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ead8b9ee-89ee-487a-9ac1-a2bdf31433cf CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec49515-4d8c-495f-829f-d59ed7882015 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2ee49d3-2055-4c1c-a55b-2964cd0f5fac CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de41363-74b9-48b6-900c-f2828744ee57 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 286dbf9d-6d70-48f2-b9bf-61a9acdc4c9d CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f79b1d2-d5c5-427d-b2ee-bbbec84c0e02 CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8301cda3-c714-4613-b8ec-5e975a49ffcf CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec8a7c3-4391-40fd-a993-e894f8f39e9c CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 366384f1-085f-4504-acc5-d339035dba71 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa35dad-ce30-49bd-ab75-4028e59f8342 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de205d42-635d-448c-a8f4-98d75197470a CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610add9e-c24f-448b-9612-02d832bba5e4 CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d775e7-23ca-4380-a6d8-7cbede5df624 CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0e790b-bed7-4cd1-8339-79fc2bc07b39 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88c72032-b1d6-4792-a5be-b015c06ab579 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a91c11b-31e0-41a9-9b92-624d32d3f690 CLINVAR:7959 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceab3f17-fc1c-454e-bcec-c901e759660c CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbea39b1-0a04-457f-99c6-46137761f696 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a76d752-d403-4e7b-8a2a-a7f7df392a2a CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795e56c0-d647-4cbe-a08f-44449c0de47e CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe4a4a5a-7819-4289-a807-c33603d65a28 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a0973a-9e44-410d-a326-d1c8f2f964d1 CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 341f58f0-90ac-4697-b7b7-cd458cae2ca9 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb55e748-9f86-4721-b1f9-be2ce37a523d CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1bb63ac-dd38-4570-8805-5dbd14fb4a46 CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f11897-ece0-4d31-a55b-1a3ba21ee88b CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fd3508f-1348-4261-b010-7fd680f6ba57 CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c9bfe7a-1e0b-4c14-b062-62fef6710644 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d14dcff-21e1-4fd4-b7f7-10dd039a4f2e CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14c7451-6746-4612-8be3-2b11debb2797 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f2e7663-3b7e-49e5-a833-7e0ba1797d56 CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d0f336-2c46-47be-a87b-f7770789bc3e CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f64799f-60ff-4cca-b086-94cc8e366231 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183c632d-029e-45f3-9110-52d882c1b74a CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9cb833a-df79-4e01-a3b6-76e1101c2752 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74e6430-8559-4d95-b6bf-366feceeea19 CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 009dc2fa-45dd-42e7-8465-a01db8c247d3 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0fcc0d4-4dc6-4d5c-8c7b-74acfaf4bcad CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe5c52e4-3b6b-4076-b9be-f9f867fb25f3 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95f46f8-3f1d-42ce-bd43-554ad0a48340 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfd1bd66-6968-492c-b5aa-4f10729fa1a8 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32fd9782-253f-4af5-8979-32aa8454a29a CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88e3dc82-17ca-42e6-b3a3-ebc6fc9d3747 CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46768803-0ad7-4496-a6a5-dab3ee5ac89a CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c720d52f-e7ea-4a00-82ad-b7c85e31a75e CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93f6049-fdc8-416b-b0a6-7ddbc299bc95 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a39236-21c0-4b4b-a3cc-333002274c05 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d7267b-8bd6-4e78-916f-582b7f37c138 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 985945e4-2cd1-455e-bb68-320ced7032ec CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7a7b2b-e9b2-4de6-9f34-ef47e595f47e CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d540421f-9d62-46a8-adf1-926c329cc006 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4072df-bd5a-42ef-9acb-90212bf4885b CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f540ef6a-7b61-40f6-aeef-c633d6d9b440 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde0560e-bcec-4a88-a9e6-8866350dfd0a CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28e81275-b8db-4ec1-bf5a-7d19d1e93f82 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f027603-61d8-4f0f-8eed-b4f71328f98f CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10b68eba-16d8-481c-9834-9075def3cbb7 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378b4c12-3c90-40d3-bd4b-1800a1158794 CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72712b57-b7fc-4368-b58f-fc657eb58716 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b56890f-770d-449b-9f66-51aa1d652d7e CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92030e50-a126-4ed5-bb48-7fd4dbf56d40 CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1cc22b-1e9c-4fd9-803e-23092eaaec3f CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbe7224f-69a2-4e9d-9a2b-1b15b865df10 CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c49680-59f1-4c42-8741-3d0ac9c8183c CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4968dc3-e4e5-4f9f-a552-8a3d5e8f85a9 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29856061-4421-4fec-bffb-3259025860df CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1da36742-6357-4b3d-8112-d33067c4dfea CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39779a6b-ed42-4471-afee-065a56f25669 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4186320-5c16-470c-9e70-097c91372b0f CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717e18ba-f148-4766-96eb-71fef2341661 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c6a67c9-a381-4209-8a90-cdfa8cd95c49 CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b922db3b-0a75-423d-89d8-7fd73080fe25 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d10c8e4-4144-4384-8bad-688c783584a1 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de948a7-7c3a-42b7-9a00-bb9351bbb6b2 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee48a873-19a8-4013-a6a3-e1dcd33dc0e4 CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df90f9f-3889-4781-ae41-5fc709162583 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86af85fa-9cf8-442d-b7a9-835ad3b516bf CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e99587-b15f-440d-84ab-dc4fa08de647 CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c74623-f7a0-44d7-a528-5cae3707410b CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45b32ea-5e5b-4354-a0bf-1b12c69593c5 CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a397fc72-d0e0-4af2-b3c4-aaa52b7f72cd CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d90d25-6685-4435-a4a2-7d57e4a1ff41 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 838735a5-c3e9-4211-804b-39ed51f4a348 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c82670-093f-4b87-98d3-9a5e16e4136d CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8533e8a9-e091-4832-a3f4-613ba0f7f83b CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5942afd-8580-4fa8-badc-2d15ddb7505c CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d26ae7-8b6b-4a26-a643-797f627dcbe7 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f907cf04-4ea3-402f-a2c4-82381779970f CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecfdd4c9-cc43-4851-89f9-3fa1917413c9 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6621d9-3916-47e7-8d57-5c43636dcb4a CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76b7e208-a0ba-4792-9eff-d18bca6e1ac4 CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bddbcad1-4c4c-4f21-8a57-8cb1bc2cbad2 CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c2d0413-e2e7-42d6-b945-5e93608fddf9 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d45cc54-65b5-40a6-9df6-edbeb09fbb25 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16aa9e5b-f1e0-438f-bb28-ac257a9990fb CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23be02b-6ed3-4c8d-b27a-31151a0ce9f6 CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77b749d9-77a5-4cfc-ae1e-dc7a71570bb1 CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8abb559c-6891-433b-8a8f-6584dcb0492b CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd316f87-ebf4-4c8a-b187-c5151baa29b8 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247e7ba7-cf41-44a9-b567-dea08c61b147 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03c50267-80c8-4b6f-96cb-758d02c59e40 CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2eddbe5-dc8c-4cf2-a57d-002d07f20089 CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44012642-8f51-4d80-a658-51beca6123d3 CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3bd390-67f6-4de9-9b88-be41dab85a70 CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7009696-5f45-4895-aedb-a682bcb1e613 CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420cb336-f389-4a42-9bec-139e5c73bdac CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0179d55d-87e9-42df-8cde-a4a5ae2a49d4 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babed443-b24d-4707-91c0-23d322dee588 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d173e513-44d1-44ac-b7be-8c5071acbfbe CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da5e9af-b531-448e-ba2b-8fc18fb159d5 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38e4f975-5e71-4e4c-83d8-b591799c974d CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04de15e-45db-45e3-86d4-35630ebf3934 CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26a714bf-d3b8-41ed-a21d-58858c55cf14 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b315eb83-8208-403c-9915-1053c5ac79fc CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3373d138-9458-4c3f-b395-0218613c08d4 CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1276dd-a0e1-4eec-ba64-5d4ed3b1f704 CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03b68210-2230-48ad-98ee-38e3707ab670 CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4e75a0-97ae-475b-8afc-15a9f5075093 CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70c51be5-5249-449e-bc53-08056b6cb67f CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d08be15-d2e8-4ed1-98a7-73f91d1a26df CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1656a4d-b718-4bc8-b3ae-08d6142b3c39 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1bb574-2c56-466c-855c-aadbd1383c6f CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2eb92c1-2f1e-45fd-af10-1f6c5c1e1437 CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6569700f-7412-4224-85c7-c35d3212bc42 CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 866f56e4-d988-4c87-af46-217a486d0a4e CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d571bd-5992-4cd9-824a-b98ed52beb55 CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ab8fb92-12ed-4e0d-8dd7-f02056266922 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ca3601-ac52-44ff-b3e6-28cbcf192be4 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 813fce57-7d35-4354-9737-61415b04f59e CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fb21fd-111a-40a4-9898-d2653a730a91 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc42732-632e-405f-8d71-4dd3e5237f5b CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7037e11f-dd11-4b54-a5bd-9a232e95a0a1 CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a006d5b-8e46-46b4-aa25-4b84db0a7eee CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe32058-ccfb-4c63-9f8b-18a5e1e61883 CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c41f7bd-b585-40b6-8376-b69686c819e3 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e38abcc-acfc-42c8-ad42-3deb7b53b420 CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62ebcc2b-8fd0-44fb-becd-10063923fc30 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83c1038-463c-4e99-93de-d530b25987e6 CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 754d1b2d-aaa5-4a7b-a59a-9bfbaa784129 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ff0176-2845-42cc-895c-6a0d0196c815 CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d51b8833-649c-4fa8-b860-3338262378cd CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b23249-bf8f-4b9d-ac88-f0c3f4602f23 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af7ed700-fbd0-4dfb-b554-598c969e8c46 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a9615c-1b4a-4144-9fef-86eac2742564 CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dddc70f-b17c-4cf0-8b96-499e015cb200 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb206647-fbcb-4148-b546-fcae228f1616 CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ec91ed7-58e9-4af5-9196-c41e73820485 CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ea1dff-5be4-4a8e-8d78-adb22d334123 CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4671c413-6219-4a4f-8959-66231ec03779 CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4ece9e-8d61-402b-a92e-0f47c3ab5310 CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24f062c8-e24a-4a02-9552-a39154d14966 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2581fb6-877e-41a9-bb36-fd042f5a82e6 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd15bfd1-b3d8-4dcd-ae92-a2808eb75a6e CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f0fe56-6d8e-4598-b942-6607afe5e818 CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93ffe929-06a8-4604-bf34-f748b12c3f61 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adfd577-c8b4-4517-9216-e089af1d3c73 CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed43dfc2-b23c-41b7-a17b-0a19742e7e83 CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5afeab-d27e-4abb-a9bc-f011d9a6a4d3 CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfef265c-3407-4635-980a-f7dcabc168bf CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9bd024-3527-420b-bce8-ebf5b9daa577 CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9204ba91-bbb5-4c59-aaf0-836613dd945d CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28b0e8b-1258-4989-8bc6-ea7eb24bb4aa CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2c85bdc-f53d-47d3-a270-d413feaf42ed CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3968baba-ff74-45b1-bff1-38521c92b5ef CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6dcb80-24e4-4ba9-a834-66ed7cacf570 CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441e0188-bb24-4a45-9a38-05dc13e845f0 CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a58b61e1-dce9-4070-a299-9211d31c1ea5 CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a62fd94-3503-4e70-a0e6-7a8b0436ba1c CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44593f4a-2fdd-46c0-b358-736c252bfa62 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ad4979-0c58-43d9-bc7c-817f8b2abb49 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe3a910a-ee72-4f24-815f-2adb1efee5fa CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79000e1f-9ad5-4ea4-9ba7-4c1c9ed93a50 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5f59aba-9ef5-45d7-9046-c88d9b0e64bc CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e64469-e6c0-42b8-8189-2257eae46201 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78f91e40-f5ad-4378-a443-6ae068bc40ae CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3676fb00-c07f-49f3-beaf-a9625f6d18fb CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 406ba2a0-e552-4d30-bce6-8b2b490559d9 CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9dabca-0085-4a1e-bbe1-f03a086b0bef CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7c7052d-b096-4d72-a80f-55adea4113cb CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d2aea27-3c61-47bf-82d5-cf227f29744c CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66a16e41-1a53-44f2-8148-57bd4fd80b76 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc9e133-0ec5-432c-812a-c5db927e3811 CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31b278b5-d9cc-4b59-b278-c9a68e7658f6 CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9f156e-40ce-4c8a-b10d-77b553ec941e CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69a19a3c-7220-42fc-8659-49bbeaf8cd92 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af1596a-e3ab-4b87-a71b-0b6645717406 CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf053f2b-3193-436b-8f03-776eb664815f CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf99ebd-1d3c-4fce-b7bf-d24c78279110 CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 418bb7fd-e1dd-4c01-b5fc-50f8c75966c7 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab42cad-33f8-49e7-a80c-0b0c4d5cf2f6 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 309fa8b5-65ce-4e19-979b-8518822bea0d CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce65143-9b40-48a8-942a-4445375e6bba CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a84f5e3-e7c9-42f9-b220-971ba602fe66 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88664ea7-74c1-45de-b547-1f05f2f419e0 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 415d9c97-0d8f-47a3-980d-7c172cdb9c95 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec3932d-e5b8-4289-bdd5-ead00c3bdb18 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a631d56-16ec-499c-9c38-5cde62e9bd14 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b38b9c4-1ed0-4234-a4c2-68b400632683 CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaaf4ce4-80e1-4250-a9fb-1d3a75885e4e CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73dac954-5614-4155-a862-f89d6aeb8d47 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 340b2c19-2b7d-466b-85ef-a96f0b99ec35 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2467b6b0-87b0-4486-b2fa-3656b4278d3a CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef1e1fba-c135-4624-94ff-1dde5e953d7a CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f19f12-dc71-4f7e-ae1a-1685476e965b CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdade312-3cb5-4a53-9720-6ad9c67c3263 CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7594ced3-d34a-40d5-a6d6-de14bea903a5 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f3fc124-3592-498a-a7b0-875b2349313e CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e93086-9c9a-4cc4-9ba1-9b23251bdd82 CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8c4d200-b159-4b3a-aee3-fe5141dc411a CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57fbc2d5-7120-4c2f-aeff-64440c98444c CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f146536-6563-42fb-8cf5-5bd9160ab3f1 CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0c6e42-8564-4f26-9d1d-dac538613b49 CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7f107af-a15f-4a9d-aa7e-862ec015a226 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab13ef7-4391-49ac-83c8-d21365bd1d16 CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8020445a-2257-4fdc-9bd1-5c3717e8a364 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc041c9e-560a-47d8-a3e0-8bc2d732b50e CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da44602a-b285-4830-b493-66ef2747a300 CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec0e3ad-4d90-456b-b59b-39dacc0463cd CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7003faa7-7032-473a-a52a-b94f34150e9a CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462144e7-ad8d-451a-815d-3e860c81002a CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 258b1c98-ede3-4990-a30f-9ef50ae63011 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fff03ec-914d-4a3b-a950-6bdc496d8766 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95c7f2df-2882-46ea-bf42-7faaaa5195bf CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9137d6dc-48f4-4d9c-931f-14f2308d1525 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa46df29-d232-4280-b3b5-998bd2af3894 CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344f8578-1cc3-4117-a050-6db672d0e0d5 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1f63c5-8cef-4454-96d9-a928d6e311a3 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc618ee-88ac-41b7-91d9-0c5b192f020a CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b482df38-69da-4a11-9ec0-16512061d14a CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ec0560-9385-4822-92a4-3d24c450c677 CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5430fa6-9943-405f-8c78-9cc6d998d28a CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c92ba9-048e-4bfe-8adb-a351e560c449 CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b78bb682-9dd2-497c-80cc-76772a724e9c CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daea9241-9fdb-4658-95f2-092b0147c7cf CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6206ac7b-3d20-451d-9698-0fa788b71760 CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc450af2-91b3-4ae2-a8e9-9f60cf8b93a4 CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e508d30f-c327-4e5b-bbf9-eeb86864254f CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca5ed9b-abcc-4be2-a42e-fc3c07e11d4b CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfa29bcd-910e-4aed-ac6c-9d282eaee76b CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06842f6f-66c3-40b2-8288-9abeaa4db196 CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b4b9791-3c4a-4dbf-a04e-b9d8707e8972 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f35942c4-9401-414a-8c72-975316624aed CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 686b7e71-0226-4006-bf14-e38a8e05f115 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3b1d31-e351-44eb-867f-37fda237d89b CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4452b8fa-a896-45e1-a9d7-ddb7f3b2e7d2 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20af955-7624-4dd5-9ea2-3e73bf91be18 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6516ede-d87a-4da7-92f8-c1344f3b91a3 CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18552ead-c3ae-411b-a379-04f5fc144741 CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c32fa876-0db2-4e33-9a56-6a8f94210fd2 CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b5006c-ec27-42b4-8709-8d59b9dd3c8e CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59ee4727-faac-4609-9d68-baf2e9827a61 CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d774daf-d687-4e08-9555-3a7aa79f25bf CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 034172b0-70a6-4063-960c-1acfb6485b0e CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c2651d-2848-45ab-a358-95a357493e20 CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2bce566-e531-47c1-b1e4-5316757fa34e CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd0cb63-b2f9-4a8c-bf75-5653b1d70c3a CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7633129-bb10-46dc-a743-47fb21e13acf CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2304bcba-81ea-400f-8c14-7073ec0b5e54 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9836cf5f-8329-493f-b37f-c2afc1d4ae07 CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a9c29f-7927-424e-a1b7-477d1555cce1 CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 281fc2d7-3efd-4a6c-8f73-c772640ea2a1 CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb7ced8-2684-4019-951a-75ef16117499 CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c402a6b3-4d4d-4ddb-95a4-8b560f5366cc CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac2d8ae-4b77-4527-8da6-cce39e5d422f CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d745c2b5-442c-4873-9455-692e721d2cdc CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a600b1-e965-4fd6-b28b-8ab69302c05f CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beb37316-8ef8-4433-a26e-624cf1b7cc91 CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b7b1ec-7a56-4718-bbb2-29d87f62dfc3 CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56dbb6cb-cff3-407d-b22f-e22ce6471542 CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b0f8086-0933-4435-a9c5-2df2d5892fa9 CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c7ed727-eebb-4f8b-8611-db27628e153c CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89fc117-e190-4061-99a8-787d1ee8a022 CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b31c5a44-e7bc-42c7-813c-6ae56a05f6d6 CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f01305-44da-4f64-b5ef-b451174c3eed CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a3a62d1-75e3-403d-aebc-dd4663e39173 CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bfacee-4547-4faf-bcac-66264caeab89 CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91cf6aa3-0d4d-4e6d-82ca-a3050cd50413 CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54938ccd-d76c-4bd4-a485-b413fe6dbe12 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a238642b-b3a9-4f6d-bc2b-e25f3a2e7af6 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4bb1efe-de31-48b7-842d-685b4f118dac CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ede58a73-229b-4cf4-97e2-356809321e4f CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b192126b-fac0-4567-86df-9db1f1f8d7e9 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ae34f84-79d3-42c8-98c7-ed87b6c330cc CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cb95e5-9d88-4266-929c-721724ceb0f6 CLINVAR:1676684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4d71fbe-25e7-4dab-8f71-0012e2335a83 CLINVAR:1676684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa747b66-89c1-41de-8949-4fb5eb3899ba CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27ff42dc-d3cb-4b0a-9c9b-afc38b81f5ad CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84542598-0635-4914-aeca-2202ab06811b CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d375d414-bc4f-42fd-a236-b31ccde91d4d CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc444039-b0f5-4421-bd37-c58ea0b41938 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 894868a8-51fc-4298-b809-d16e0c2449f5 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d306d5f-2fcf-4a2e-abef-2d283f5ad52f CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5320ced1-e0f0-4c10-bcfe-71c0e2f0a61b CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46481d1e-3f46-46a9-8d09-dff68b548121 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb5795e5-8010-4f19-ad3d-1bdee7ea402a CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d39337-8add-426c-a8d1-4932e3740030 CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f65dcc40-048d-4e63-a11e-074bf53bdd84 CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f38851-0421-414e-a281-da99c1abf36b CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6487a093-e9af-4ca0-a28b-ed219de34b75 CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad15c85-315c-498c-ae1f-4be7337370c9 CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36e26fb7-4d1e-4f27-be90-0cc5fdac4405 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666d496d-121b-47aa-80c9-199b7bbed331 CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b226f817-5b41-479d-8cd1-74efc335d5cf CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1424e5-5b48-41d7-9168-9119f9eb41e4 CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ac4236a-e6bc-4205-9766-d6af46b6d544 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9c9637-5bd6-4706-b25a-b2564c3467c1 CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d02659bd-71cf-4bda-8a60-053d670990e3 CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d64083-5e38-4ce2-a89f-81aef012f631 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f4fc698-4c6a-4e40-9bad-e87efa855a46 CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af38737-a227-44fb-822c-1de8338c625a CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897fc169-ddbe-47b0-9c92-aa732faa956e CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7287f0-e3f0-44f2-a501-daf0cef23ec4 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f05f52a9-35ed-454a-b80f-8127ea4067d1 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956dd47d-ff41-4bf5-9d0c-bb6651908bb9 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c81985c-602d-4dff-b47a-5f744dad77c5 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bde4c5-2ef7-4c0e-a5dd-9ef8f180de3b CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c65d3473-d5bb-4561-84bc-ac4b808e1149 CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2740315a-35cf-4e2d-850b-c55b5609a07d CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc43780c-74f2-48ce-90aa-8097e8079f92 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74849b03-d63f-48f9-a5cc-b1978e6a2bbc CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38593d0f-db38-43d3-8e87-c97bea99b3cd CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bfd02b-54db-4b47-a9ff-ba9f7609a521 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd5b7b67-3e61-40b9-bc59-f819b46de853 CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8766da-b731-4b6d-9d4f-493c648fe942 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53a9641c-f55f-4482-a399-988d3d7ba889 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccef855a-683b-4883-836e-ac88d3579d63 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d398ef47-084e-474c-8e63-8ecc2fc76f4b CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a55915b-249c-4f18-885c-75dcbdc2acea CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfe5607f-dff5-48f8-9e95-5a0689813816 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd9596c-b1e6-4d87-ad8c-433978cff5ee CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cf62063-07d7-4a2c-90a4-597ece574fac CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a0b20d-e44f-485e-84c1-5c4a6c96228c CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf549b9c-4288-452f-b2b2-5bc54b3cbd10 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54263feb-5886-4fe8-b10c-4ea9586114ce CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 668a39d5-6031-4b4d-bf1b-58256bfaceca CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6ad533-b6e7-42f3-b3a8-c54c7cc3363d CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daf9d1d8-7c57-406a-8054-51b80a94f578 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e300bba9-8d64-4a27-bf85-5e8182979cc5 CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76a1ca4a-e71e-4cd3-81b5-2960c04fd1e6 CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c18b59-74c6-4e8a-b178-3ba8cdf3ecfe CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fbb7e1c-17c1-48b1-97d7-17241b341eef CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84667325-5dce-47e5-a9bb-acbf8d316438 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dec6e46-429d-4e02-bd53-a0475b3e901e CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9fee9bf-a568-4672-a835-d0f87339e981 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f17bf5e-2b90-4a0d-a4cd-97ce126bb8e5 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5454df88-9468-498f-b23b-287f92b77664 CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3866a89e-be11-4646-acb6-c1a3af2117ed CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf11a9b-24e3-423f-9a89-aafb9e3cd062 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e66c3c1-012c-46c7-a5e5-3cd3d540d50d CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65e5b93-5fa7-4fd1-a0a5-f19227761e56 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 449d2095-8fc7-477c-ac48-4497a2e22174 CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4facbe-df23-444d-a019-122a0827e8ba CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38ccaa70-2d5a-4ee3-8032-9898f78f1173 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80adc206-750d-4667-9f39-61c314dba0c3 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ea73bb7-1ae5-4ddb-a10f-880fd1f17523 CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027546bd-5c1f-404e-80e0-cf4433a84e96 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3022381f-8fa9-4e34-9102-4ccffb7efe6e CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1631ac-e093-495d-b3c1-3f6c91527d47 CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7edb18-e7d4-42cc-bb28-43ad07a8addc CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414df434-d1b8-4cb0-b825-41649c8d5e8a CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67c61e7a-375e-4e9f-b988-ef36b19f35cd CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1101f4-42a8-474b-a060-62a4c1c6c44f CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f91bcc7f-ddb5-48aa-98b1-dd98108db207 CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d347bb-06e8-4761-a251-e0eb64b421ad CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab3acfd6-e4b2-4d6b-a613-6252860418e5 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792cb1bc-6cda-40b8-a5a9-2648e9b772f7 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f870ddf6-61d1-4661-afd0-429fefbf4337 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687b8035-5e5b-47cf-8d2d-15f2d5eb47e3 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7304ecf5-a0ed-4c8e-858c-a7dfd4d2cd00 CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c00143-2823-4839-b45b-efa34b1fb024 CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa9a6235-9621-4391-ae20-9207fd2988e7 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22af17f3-2298-475c-b027-a3b02542aa9d CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a74232c5-ce30-4782-9834-3b2bc72d654d CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b3bb05-dadb-4206-8f99-df0a20a9efc8 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c9617fb-0854-41b3-a625-49f80fb66613 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e295a3c4-0ea7-42bc-b588-1b731f1995b1 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f45f724f-2418-4a0c-8135-78dc1b438019 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6128cad-8eba-4a2c-a8c6-2a6b5141f880 CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f81cc82f-4b20-4ea3-9f20-d9e2654983c3 CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbae87bc-2a08-431f-93fe-819d961f8d6b CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d7808d0-1635-4b8c-b3d5-718964b95ed1 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29516e06-612b-40db-9830-d87ba3fb7698 CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c88e7d8-766a-4673-a6da-245fdb11906b CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a05185-e8d7-4094-8f2e-32f4991412f2 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d43bf3c6-6bc5-4f24-943d-bbb8e4e3f573 CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69002973-4c22-4494-99c7-23453b873b87 CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ae39af9-f5b3-48d1-b4a8-74b0eb29b4ee CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f52a36-37e6-4389-95cc-543e9e4e51c8 CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ed6e9fb-2297-4c17-b4b0-f7d12906f7bc CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51be3e74-516c-4c6f-afb8-309a0acbb188 CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5ec949f-cfc5-4231-aa38-2dbe727ddd7f CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff0cfd4-ad95-42d4-a484-942d5a8cb3f8 CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fce87fb8-87fa-4ece-b1f8-e7671d9aa2d1 CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d1bfe6-8b56-442e-9ff1-9332e83ca36b CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d720979-ac31-4a5d-9f61-4f22bde8cbd6 CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89eb0263-f980-4b05-a2f7-28a3a0dacb9f CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be2f7ea3-7703-4361-84f6-003a95bc1cc0 CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072d885a-44bd-4bec-8ddd-22904c2fb750 CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b30310c-dead-4c4d-885c-d8a3d003fc5b CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645f7ad6-02a7-4397-b0bd-c167b285fd91 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ae33eff-b597-4767-aba7-4dc8f67f87c8 CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b8c537-0ffa-4c1c-bdb0-43e1d4bc889c CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a20a6f3-0f2c-4fe2-a1ec-3c4f849ad968 CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2f989a-a413-4b3f-8cd9-61f4ce106144 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 813ab3fb-4c1d-4169-b19c-aaa86e914be1 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959dac7c-f8c0-489e-a42d-9577f427d955 CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4094c2f0-77d1-4870-bf2e-973bb897a7dc CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c3218b-e099-402a-9a60-73f8cf140638 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8720248c-cde7-4154-b95f-3d2c202542ca CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdb6bb9-b539-4bcb-b69f-8ce73065fd09 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29667b85-54fd-4f36-a2e0-21c409dfb727 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47bb2f7-e1b1-47ab-b573-f811ca0b93cf CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f9aa955-70b3-4be1-87c2-161245849fc6 CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b51e0c-b688-46ec-9c29-29e082a1a175 CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d30ff56-91ed-4c39-8027-bf028e6df09d CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29141a90-5856-4c79-939a-f26f3234c89b CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd88b728-7a44-4f28-af9d-e46d254b55d2 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d212dd9-b08f-404d-bd94-406c35909daf CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb06c5e-7a3c-485c-9730-1690c626c12e CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9a91d3-760a-4b2e-bb30-cffe7cf79b8e CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6ff8701-3360-48e2-ad74-7d08ad5b31bf CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedb71c8-f8ca-4717-9cf7-bfc47dcecb31 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2a74e1d-64b9-4c62-a4cb-22dfc6b9e0ae CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f578119e-be7b-41d5-a3fe-3f2574709359 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c99b00f0-1bf5-4532-9e30-d330bbbfedd7 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a3be5a-c287-4bb5-8f2d-2d912b2cf4da CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c650c2dd-ee7b-46fc-bb41-eee9ade75206 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d25892-4627-4b8a-b04e-7cb507b1b611 CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c59ea05-6c08-4d0a-a37f-ff55dbf988bd CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d091376-5782-437c-a8c4-b96607fa2a94 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afaaf3ed-c9ad-4200-a467-7781411ee329 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24faca6-7304-4f57-a6e9-afeeb16a0185 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 740531f9-fcb9-494f-bfe0-418ee884215a CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8d9a88-05cb-47ab-b104-a1a86791f0cb CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d9ef374-fd74-419a-a0db-e483b370fd4a CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbfd379-23c6-4ec6-968b-ab53bf24235e CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fa68c65-0553-4602-90a3-533e22359dfe CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d135aa6-87a7-42a1-96b7-fe921092e635 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7edbc80f-7a3a-49f4-b1f4-e8ab7017fda0 CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c6f881-b706-49fe-95ce-20662708b886 CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57e2aa2c-0d8e-46ab-80ae-69f0d03b7b08 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd153426-ff5e-4830-9091-718c7d7af301 CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f336edd-731d-484b-822a-e73b321d0444 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cda90de-d2bb-4ddd-8b4f-1b90745061e5 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3478d43b-63ed-4932-b270-2d0de8b41129 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c62e41-2311-4329-9b13-99425c363174 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88535d29-fd25-4fb1-bae7-654f00e46e59 CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eeb28e6-24d5-41ee-9dc3-45fc8d69bbb4 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b810583-f69c-4eb8-8668-08de13e524c8 CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980a86f3-79bc-4533-b9d2-383cff5d77bb CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b51cb6bb-7017-4eb3-8517-3440371631eb CLINVAR:1676710 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60dad16-d39a-47df-9ff6-f0a242b2f198 CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6c01949-a6cb-4336-bcbf-59c794a086f5 CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40ab2d3-487e-4f95-b562-eb02cadb2356 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a763d5d-fc32-460e-84c4-e2237c53fd46 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96adbaf6-20ba-4028-af78-00968a409add CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f0d5935-4c7f-417a-a82f-57c57f110c97 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8734fd0-4537-4ed3-a0fa-07231537cde7 CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c2785eb-5c54-4a4e-a4bc-97bceebf9b5a CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ef9a29-e40d-4e0d-aaf1-cc2f84329681 CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fc2908d-24d4-4756-9812-e6ca1f71345d CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650af24d-8ae9-4b8c-b75b-5f0c9095bdb6 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63bdcea0-0f5a-4397-9a25-5b7874868d29 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10800d70-3083-4da8-b90f-ffd22084ca1e CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 635564c6-ea5b-404a-9cbc-02b627b86411 CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb93726-4c89-4326-adec-dbf9742f9baf CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28c770f-8b3c-4349-a67e-070b14b89eb4 CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb69800a-56d9-4737-b306-2e05b44d2051 CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f773a625-187b-4079-8034-d838f0879104 CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4f01cf-bed7-4060-a21d-fec6025421d1 CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e5a9971-c157-4e1b-9bfb-ed3a3f7b7fb5 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a34164-0487-40b4-bb3c-b4787b22b76b CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41920a87-a127-4209-8221-3b3feff3a89e CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c6a135-03ab-4f26-a321-95203f43d92b CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 381865c9-f3fc-4939-abb1-94cd7a01812f CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eaa921b-af95-4d66-befd-3a20e79a8200 CLINVAR:998237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6aca2d3b-e3bc-48a7-b02f-7682e039548d CLINVAR:998237 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f512bfc-62db-4ce2-b55a-8fba420d71c3 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f478be4-6636-4e1d-91fe-0b6a7c07e734 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6a3519-37cb-49bf-8c72-6f65e972930c CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b07abc49-6f60-4dd6-ab3a-835a32195d50 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f2c5c3-f743-477d-a577-c7ff17fed57b CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff430d8f-5d77-4a30-a4ee-cffd68efb3dd CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2b11ec-46c5-46ef-8b6b-059ff62f242a CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46a622a4-c2b6-4120-b0d8-3c07b3df15d9 CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69f1491-9fa4-4c1a-92e8-efd0c4d88e3b CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 668f41f4-99ad-4fe7-8991-045f641089e7 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9896520-1178-46b6-9860-ad9432fabf1f CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cca79826-ddea-4153-8f5f-1eeda69740df CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53e95aa-8240-469c-a884-ed6fce0807c7 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1d799e-281e-4345-9a1c-7e8d9969dd36 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f28f8c-f56f-402b-b293-65c05f605327 CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb461e7c-9318-4204-a996-6dccb76f2592 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee8abc4-4458-4188-883f-d0d8640e6230 CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93ec6223-8bdd-40ee-925d-bfd54db126ea CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36be8417-bcba-4f5e-a0ec-ac3bc345ad66 CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 658577f1-4746-4b7a-afe9-091429a78c3d CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4b3da9-db04-4e65-b551-005763f41618 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21da261d-2925-4e26-abdb-ba9946ec72f8 CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69701ded-51b7-47dd-8ec1-fa2ff7eb2b99 CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02f1fb82-db3e-41ea-b3f5-2fd9c0cf5dfa CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af073f2-d6bb-405b-9b37-685a61e1bc0c CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c14d72d-22b1-43b1-a8e4-39c86625907b CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4b13eac-3dce-4ad9-a10c-c621867f7343 CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a96033a-2fbf-4a56-9e0d-ef5d37e2b69a CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f56b375-2622-49ab-a471-0bf3ce7ee051 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1f75b5f-27e8-4f5e-99ca-77a438e39bd2 CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bf8752-6761-4759-916e-afd473f32f2c CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d433712-90b6-40c4-9c6a-266139eae862 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51c026f-a620-4f1f-866e-37cf54da5a50 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58080585-37e1-4e9d-912d-bffd3d399042 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec908ae9-26dc-4e0e-989f-ddf523238089 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d3893bb-a026-4ca7-9f75-b37118404a91 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269b92ed-d4f2-42a7-af39-dc44aa734a1d CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0a3aae0-1a7a-4220-977a-7520f7baa433 CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 915b41eb-c393-4874-8f21-812cf7544d96 CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6723f799-9ca3-4ae7-a53e-391f8c5f4ea1 CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaaf3997-8f28-40c6-99b6-31813c2e9fa8 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20198698-3435-4a12-b94c-3d4837756b18 CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65be0b6e-9cd2-4cb3-abae-b73db9d2f297 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46719063-77dd-4173-a3f8-369ef46759a6 CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665d4318-7428-4fa3-b206-30ebde17c50e CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52a60f4f-6bcf-4eaf-8275-b48431de15c8 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5035dfc9-a8f9-4b7c-8531-ddeb37a92d42 CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bf41229-ac84-4941-8a8d-5f8c2747f94d CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f883624-17e1-4a0c-bf72-d78a4e5e92cd CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beef5512-5916-4d92-aa5a-fe9ef1103636 CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c64bb85-1ca1-4828-aff5-94f21dbe1552 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b8573ed-c590-4b13-9ea2-27520aa913b2 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e570e693-a37c-4fd8-8fb0-6ef90763e291 CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55a2ce83-204d-4559-8a97-77957d6f7d3f CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c63fd78-0157-4d14-846d-e6508a7b9ab3 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 829809ff-fbd3-4892-a1d3-25d2419ebad2 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df79e03a-d6e8-4fad-912d-42f9b31f32cc CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb2e277f-3d31-492a-95a7-ac6e0c747b70 CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9adbdf-1af7-46d7-9e5a-fef9f0d843e3 CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46e0f8ef-aec6-4559-be89-4584374798d3 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f27cb83-db32-41a8-b98f-4f052880c18b CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d8abad-0f2e-46eb-bc09-745dbadc09fc CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f678c35-72a2-412e-9a2a-8ae293f8cd08 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eddce43f-b201-44b2-b2b1-5fd306d82278 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef30996-800c-45b6-a175-d39e3b298281 CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44c76516-bcbb-41aa-9934-26e723665649 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3fa45d3-75f1-4a7c-ba16-d588131c1755 CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7ccb2a5-97c3-4e43-adb7-e88048788615 CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b03f0e8a-a11d-46d7-a603-78b5eaf00f2b CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73f3139f-915c-44b7-8919-b60f14d351a1 CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a78a37-9a86-45c1-9448-909887b1ff16 CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b53e1701-1521-4f48-8df9-ef8bfcb150a3 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be386778-9e7c-4ffc-8d76-99dc38411843 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd46c2c-e9e9-471f-84f3-1626c7dc6e15 CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd4fd2e-0522-49f6-a5bb-f9c05ebec1ab CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ab48c0e-c01a-4c37-bc27-fc7d1340eec2 CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa67897-1b07-4e84-8683-dd33d5a1f4e0 CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81e252f5-f3f2-4fbc-b701-5dc72c610894 CLINVAR:1687072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8d430f-1b44-4951-bc78-cbc9ecfd1feb CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8e2c91a-0bf7-4538-9a85-c5516c2b1e7d CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a8dba0b-949f-4e65-b2ea-82fcbe379e14 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee49a482-77aa-4951-b1b8-463051d06685 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf5b8e3-da9c-4c2e-b7f5-a0573c7b3ee5 CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98ba46bc-2a2a-48d8-b0b4-a21db897ff8a CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b347ac-29f0-423d-8a5f-8ed540885975 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 640f45df-c448-46b0-a297-fb0f7853efbb CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a58164-df4f-445b-a4cc-2b905b1b40a8 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0021bee-e8af-40f0-b9ee-19fc03a9665c CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8927b8a-80be-4ddd-b7cc-440a656b54a2 CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d9d8364-adb1-4419-ae37-20d6ab47e6c7 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0807356e-d7a3-4261-b5ce-851e85dfdd49 CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa5008a7-b8a9-4c82-a288-260b2ef87882 CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8c3038-3b89-4237-827b-1bbdf1d4e751 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ac317b9-3bfb-4a1f-9701-55476cc58220 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b098341-47e7-489a-8cbd-7066df149c60 CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29253dc0-b39e-4c67-89e5-0c71839030c6 CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5d6d89-c01c-45f7-b22a-694b168ab235 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5ac3716-353a-4e9f-b8f7-79a3be09d6d6 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ca6ab6-7dfb-402a-8fcb-cc9eb34ea242 CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec70674b-9c4c-4a70-89b7-5d066ce4240d CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805d6978-fa0d-4923-bfa8-f0818ec1d4c4 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66beb874-8c38-4f58-9ca5-a8d0d0657ec4 CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcb8557-ea39-4d26-b8ae-05a0757bb522 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caedb060-fb7e-47da-a3a5-627cd1545293 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d49b464-fb8a-4b34-b718-ab30d4a49eae CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 303d20eb-ede3-47e3-b53e-81875f9f3003 CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34994d92-88b5-4175-a9f1-6b3a8c5ba2f6 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b982e02b-2294-4344-af45-1cb90982874f CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38548af-3204-4645-895b-01ce97faaa22 CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ddfb917-78e5-45f8-9404-0e78af340dbf CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138c3f1a-524c-4ccf-8005-4a6e609d72f3 CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c1b8fdb-9a4e-45b0-9358-ce5a44e8c09b CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b32dd25-d613-44c8-b327-e9564fccc737 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05617ff6-28e1-4fa2-83bc-96dc2d477709 CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d98941e-dfeb-449b-a5a4-ec88170cd890 CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f961634-c6be-4d6e-b104-e5780b7a37a5 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086b7afa-6133-420d-a0da-eb821853b9b5 CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 325cebff-b7d7-403a-a363-ed83034b684f CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897da0f1-12bf-488d-ac9b-db784850c827 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7adc4d25-daaf-4868-af35-448370854d66 CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d034154-78b4-419d-be9f-25b42ac84add CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb3cc142-1faf-4afb-b6be-3da09ec230b7 CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f56f8dd-1c2d-4815-afa5-c17a6137606a CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d072c2e4-3a7c-4977-835c-598501f55104 CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb483dfe-4859-4f6f-97a2-65f4d7084977 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7e6b6c-6d9d-4898-b02b-7a77479bafc0 CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e9d654-cad5-42da-86b5-4c21722eaec8 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bd4fdde-90d7-4a73-bd4c-b7862dd2e30c CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba056383-4103-4b29-9bf5-cd45c4b44fd6 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5fb61bb-f2c5-4132-992b-07ac6fbdc66f CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2bbc99-ae95-46cf-9c34-2e5f0b1806f9 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a303a8d9-8c85-4cde-96ba-3979aae02ad2 CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be6d988-f0a6-47b1-9dbb-052e1485a356 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a73cb673-ee6d-4230-9d25-ae4be11a3136 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6549136-f98d-44e2-90fa-3b95bc93c4c5 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12024603-8216-44e5-adbf-3d15c9f6a547 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e467aeca-0e94-4ddc-8b05-58d8b7c94470 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2a12074-af46-4d5e-8080-edfd1e0b4188 CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53fd602e-eee7-40f0-9d0c-4d7c628b55e1 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76f7eb21-e6db-4bd1-8894-ff53ff0d6925 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b0019e-fdef-4f1d-8f54-4cfe3c089bce CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f572acb0-bcc7-4983-ab89-7be8bc0ba13b CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253b1c83-dd1d-4a29-a127-0d5e0236edfc CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 908579ff-585e-43f9-a29a-ea834abdac61 CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7aaff0-1158-486a-ab4d-a3b3957b678c CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8061dc8d-7b51-4309-b645-1f8df5a7c5fc CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c864298-3626-4237-9557-66ab1cb95ff9 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b950531-d3b9-4518-b8c5-45b792dca819 CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9ea374-983f-4ed5-8fc1-bd36e7f7aaf3 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb3b7f9c-4c91-49a4-ac3a-304daec16266 CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195545d9-77f8-46b7-a6d6-53fafdb9ebb9 CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94952a4e-6b37-47ed-ab70-0118af50fc8d CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb5897c-3a7f-4e2b-a970-7e9f00fad369 CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55ab175a-99e5-46a2-a3ba-98c4f055b3c8 CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da4a36e-9680-444a-8196-116126f7a68d CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bc8256c-1020-45df-bd44-ba86a189a8c1 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e18704-c8b3-43a2-8bd0-ccc49d6a4275 CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b22c831b-0303-478a-bd12-d6ddb66d1538 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d88b42-4cec-48ec-a061-4005e5ead7b1 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 995b6155-f356-4d6e-b850-52bdbe9f0022 CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4045ec2-8437-4a87-a9d1-256c1098f687 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 704dd1c0-9d52-49ca-b96c-8be391df480a CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b054958-14b7-487f-9c10-9c8112df7b2a CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dec7b06a-42e3-48fd-a440-efa8fdf38719 CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4e07eb-2dbd-423a-b87c-92537cf5139c CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5334184e-e1bd-4375-840d-ffc82f4ac2af CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d15b0cb-9e89-40c8-a479-e9c9292a3487 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc059f5-db69-4682-8371-18dc45d14247 CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51dcbce-b2d2-4d48-8d4c-d6318f665843 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 511f62c2-fc01-4c11-987a-e85749c184dd CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0878053-0e50-48f1-bdb5-9d7076687851 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 542e7238-5b5a-4a12-a4fd-1dddf0acb20a CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fac487a-3cfa-4d99-b654-04b78fe2de5f CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ef03332-9f8a-4871-968a-9149ff0fff25 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3515d0e4-9a09-4043-b7f7-720c2a208846 CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cb1e758-bab8-4673-b878-ad48027ad3f0 CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094cefdb-3d94-49c5-a7de-53109ec11186 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ebad06-3426-49bb-b7e1-d5d94d47a26a CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b410fd-8a6a-4d9e-9eef-37e952b3d138 CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78acb424-8199-42a8-92a0-46c03711834a CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86a8ab6-8746-4d72-8b3d-6f02be9ab9be CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3aff2eb6-5979-47a1-9a96-724f7eec97a7 CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223ded6f-6a0b-41bf-9aae-4cfdc7bf61d5 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 640dffd0-6520-4fe9-b050-4b0258f6650c CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b7275e-e2e2-4838-84f4-dae9d39319b6 CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 839b2f95-e942-4628-a029-c8f1daef21aa CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0033acf6-ec0f-4cf1-b6f2-5e364a3cdaa0 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5147fc6b-04ad-4b61-9b17-516611c539dd CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b56ea44-0ce7-4081-a6c1-2ee3e2e6af4f CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03e312a6-3ae6-4498-9105-1375d6c8930a CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a80700-c05b-4dd8-958e-fa6fb3398543 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b74aadae-c3c0-4762-b311-5147e8f2fe5f CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6743b81f-3c1b-4a89-a9ec-3f18f4a76c6b CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d1f004-3c49-414c-a797-e131b30cc576 CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 037a3020-2b51-4263-975f-16a2fb3ca459 CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1f0f043-edbe-4d06-b56f-931568b4bf22 CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5131ba-a281-4939-9ce2-e52f26edac2b CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15751057-4083-4ba1-9d16-05e7dce46078 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799effd7-7d0a-48d9-ac78-13aa65ff0f3b CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 765a6409-4f27-4a1a-aa1c-7dcf59f2a8a1 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1567a8-8991-411e-bb64-adae65a2d5a4 CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4183837d-72ea-4237-b968-18b3e840c537 CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b399a864-170f-4fbb-b317-e3a074e38c49 CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e242b684-3542-4fe6-a5c5-01c038251d8b CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fab5a4-bb38-46cc-97d2-8207006f149d CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d46056e8-6df3-43d4-aebc-31410f1dbc54 CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38dd9902-185b-45f4-98ef-8bf0176021b0 CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9428e2b-5d15-498d-9289-fcbaa91b0fef CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4bfde3-fbc1-4388-bea6-f8f5c227dc3d CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 159f5e3b-eb61-4acf-ad48-a855f35c573b CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b086781d-6583-4591-84b5-15f61805e33c CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5378d804-3a1f-41c9-8fe3-7c8b318ba79f CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828a077c-3f57-42bb-8cd7-95e551114006 CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb19ce21-00c0-4a91-ad75-ceca9f90765a CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c433cfd7-6563-4fa3-920e-6b2789ccf844 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f04c36d9-d81c-4a5f-9002-da3ae240cb9d CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b743deb2-d4fd-4842-b747-21ec0fe1d44f CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1bac2ea-074a-4b73-80c3-364df56d30c3 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6abb5a9b-be6b-497a-b0c3-c68008954297 CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c24f971-7695-4bac-a2d0-f590a3c82d21 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97982ecb-f1d9-49d7-a9fd-9d23bb043ec6 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ae76c32-efb8-484e-bba3-f28d031b6ab8 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72714cbd-7149-4dd3-ad46-569c36053700 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3de87ace-6f68-42e7-8138-cb56baf293bc CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d73ae62b-3003-49df-a8c8-99a0a0a97cfc CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71a889c4-040e-44a8-9ea4-97931fc047ac CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3495e15f-dec0-4457-8638-a2cb86a271a2 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f4034e1-ed65-4712-b8db-0b2c7648c5a7 CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280b6d25-1706-480a-b225-0dceb963c961 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c995eac3-e636-4cef-956c-046cd1575a13 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1792ddd1-715b-40e0-bd1f-32cba969873a CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e4dde4d-9ea8-48b0-aa0f-f4faddb5c038 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c510ee41-8cf5-4e7a-8d10-870dc7ac0523 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd898c2e-b372-4cb0-b9c3-60baba80984f CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6288aa98-1b57-4271-8b0e-9f01cf97d0bc CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e5a6caa-65f3-4de5-9083-0b3c0c866649 CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98e80fc-750a-4f8e-a90b-46837b55a558 CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77629f72-b8ee-4113-84f8-2cefac99b7fe CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37b1a8fb-f756-461d-8151-8499dcf96bdd CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1357cdb-e0a1-450a-a964-fe4387647dc1 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5c0d47-4d02-4b5a-bd45-ab005e2ec293 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d332879-efa5-418a-91df-f33a7ed0507d CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 036ac8a8-b38e-42f4-bf97-48b15c9f84bc CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e90c78c3-34af-4443-b9a2-17ec520894b9 CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afbcbec-7d95-46cb-a121-9315b02b3235 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa0f7fbc-f6f7-4a41-9a8d-7121fb969aa1 CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6b08e4-e741-47d7-8047-6977028a667e CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a927500-6ded-4d48-ae2b-c449855e4f22 CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1bded2-9f89-4187-8005-f7c55edf6ba6 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11092236-7b81-44e4-9db5-eeec5824e4ce CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4770d9de-059d-436b-9f8f-772a05cc78f6 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f5f119d-8a7e-451b-beac-9724380c55f4 CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40a6aef-2423-4697-8640-d265eb7f59d4 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbbe440d-7049-4641-9dd4-0e22a945f756 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35028b0-1b29-495c-8a0a-a1105a503c6d CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa1bba7a-e0df-42cc-b78e-d2c79aea8968 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be0e84b-77f9-43bc-93c0-58b9c8bd9826 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 787c8833-2a91-4355-b099-e3aaed572e54 CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d9c520-4c32-478f-ba22-f7fbb795dcf0 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac479199-3cfb-4f20-8c22-4db6f55f46a6 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69234b40-0778-4afc-a796-f22f0246072c CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 181556cd-47a7-4884-b155-539507af83e1 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abca8e1-f269-4436-8154-d69e66fdfdd1 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cecc6668-546b-43f9-b297-9435c7ddb5e4 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb67a87-7561-4146-990a-54b6c1f7e169 CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4b14f24-e801-4cd0-afd8-6f8ba956073e CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac30edd8-76e7-4052-916d-17a0f0ce4e8f CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8c4a28-969b-42bb-9b3c-57df55dfb90c CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c1b8886-4425-4377-a43e-f36bb6b2b016 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f129f22-1f15-462a-82c4-fe97f7d604d1 CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2c9314-7b08-47e5-9698-95dd70489eab CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b87d839f-1fc6-499e-a04e-6c207b54e1c3 CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5ba026-d5f3-434c-bb2e-7c7181350c87 CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e8b804d-9117-4d8b-9142-ab0baa3f6ed3 CLINVAR:1686788 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab09a866-87c1-4f7a-85be-1cdf2fd92f2d CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cff6216-9602-444a-b810-332a551496ab CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23dac643-52af-4ec8-b620-8cd30773a2af CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5436ad9-0328-4628-9d91-8b77c3027487 CLINVAR:1686795 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6131e6d4-27ac-4099-ac4f-378c7b402b8c CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92dfec5f-0251-4cc4-ae10-23e6a0cfd67b CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa1f31d-d670-46ae-8943-4716e649ea94 CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a182e80-8642-41de-80dc-d4e45501e83e CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0314298-a008-474a-8efa-c7c473e48a12 CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4de0f690-ef3d-4235-b93e-4c8625bf15ef CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7a5288-b5a4-4390-99fe-99b9a9c57a01 CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 242206d7-65ec-41e4-8ab3-104a5b014472 CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cfb2b1-f19c-42a8-97d3-b7debab85d4d CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 092041af-edf3-4120-aef0-1cb46c7bf71c CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385ca111-ad45-4757-af8a-cde372d890f5 CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9129fe3-67f5-435f-945e-1e30a1b2e3c4 CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeecf490-8cbd-42b6-8d5c-c080a7b16d3b CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 522456da-b2aa-45a1-a5c5-898320314a74 CLINVAR:1686784 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468f8fc0-37a0-489b-842f-dfee4c31dea4 CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8615fbd6-215b-4d9e-ad02-57cbde2bc909 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7620f42-20da-44a2-b714-b93bf1816753 CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40d7a690-dec8-42fd-b65e-765bcdb12458 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e4d907-1c04-44ed-8632-2e90bb638b88 CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6fb92d3-c634-4297-adad-fa5d57016a76 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ca97f8-aba5-4aff-af52-8fad6796fcc9 CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22d344d1-7ace-4cd1-a049-0039fdeb60d7 CLINVAR:1686785 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654555f0-0219-49a3-8ea9-f111346cd619 CLINVAR:1686786 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b419999d-1a47-47f7-839c-359f12e421bf CLINVAR:1686786 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a4fda9-e1b9-4369-b9df-e1149c76a22b CLINVAR:1686787 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 633e5625-8dcd-42a3-8222-566987a302e7 CLINVAR:1686787 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ac1d46-4f6c-4bd3-9022-68075719644a CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5158278-7882-4335-8f8d-7402c960a4ff CLINVAR:1686789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31452b6e-b6f9-4f5b-ae44-fba5aca52ccb CLINVAR:1686790 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 946fec4e-36fa-4c32-80fa-f8fe94837ceb CLINVAR:1686790 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d7d523-5f85-464d-9ac8-8f08a87c131b CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22c8bf2-85f2-41f8-8428-9a7341a609a9 CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf9409d-defc-464f-ac82-27bd1dc7ac17 CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5ca91e7-b108-4112-b23d-6fbe95f70090 CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f66191-af56-4c2d-928c-b5f83bd641a9 CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 822c8f2b-006e-466c-afa0-66ab8aa2bc18 CLINVAR:1686793 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29eb8a56-f140-4442-8a32-c669424f3da8 CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59e7294d-196e-4abe-ab09-fb8dd2bf41fe CLINVAR:1686794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5caa8f-6b09-42b1-a78d-9fa11d60239d CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 324ccbc0-163b-44f9-b349-d153b483b0bb CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5f0403-8e45-4918-85a2-509bb90dd7c7 CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 326a8047-2b9f-4592-8118-bb2c9b9a3894 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0512e788-3c13-4a99-8177-eea1bb529673 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26ced98f-c15f-4f4a-a53d-29e7992c0ca1 CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581a88e8-f66d-475e-8e9f-ea76374715bd CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c81962b-df23-4499-b148-0b5a2a276a94 CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070067c2-3d65-4382-8a5a-50eeb31db978 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b14ca1a8-71ee-423e-bc1b-a250391bb002 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ae20f2-0b62-48e1-a6a9-2752972d8106 CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75214307-8069-46cb-9660-b5d61c5e9520 CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3238f24e-e0b6-4b8d-aea0-c41cbabf824c CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9937fa8b-ff15-42a4-97d3-9fa11315fa7a CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35aa32d1-c080-4739-b766-a0778249f828 CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62f14119-72ec-493c-ac44-288bd8a6c6ea CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da1bf7a-33f1-425a-9314-0b5639149bde CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c3db5c7-3546-410d-b212-5276d7343241 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118739cd-fe55-41fa-a957-d2e50b700c84 CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6347bcc8-08fd-496c-b2bd-2936e397d0ef CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be03347f-874b-422e-a702-a47671cc85dc CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ee36888-ee58-4d11-9315-029ac8cf9c05 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7aebd62-87f2-4f37-9a71-8bcb2ca0dcbb CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a16f5abe-6052-46b5-8de3-0d51da12721d CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2f9040-ea06-4136-8fac-04be1f6a3e3b CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5c98a66-7347-425f-b06a-a0640af2f032 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1490005-6a6d-4542-9158-0a4f5cc1d42b CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b572c94-421a-4531-84f9-d6a46f217774 CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8f9839-2a9c-418f-98b5-2f88bfe35de7 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d86c0468-cd25-46c9-8a0a-7426cf2941f2 CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c54ec9-9586-4af3-b61e-945b6d0495ad CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dc59f25-a9aa-41ee-876f-e6c6187b5bff CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5740ca-d737-4ede-ad54-d7a56372f1c9 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a258fd78-520a-46e7-b071-6da46ffd4f5a CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1781fff0-7be8-45e0-ba9f-f68f2e070cdd CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95b3423b-3af3-40f3-bcce-c5c28d908b99 CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db161da-0350-4013-bd62-3d7efe709f57 CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6e27ae2-1483-4a38-9c17-bf9c4de44e8c CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a9e453-497f-4524-9af8-dea6a612b610 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fe1ca10-f874-469e-a1c7-20c57e8fa220 CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a618d94-592c-4241-97ec-28fe487d7a82 CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2ea3b3f-6ccc-4b16-9c93-8685cde88107 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5ab91a-0a06-4fa1-ae87-195bb0250ed8 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db3fa046-3c39-460b-bd44-480e349e8254 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d262f13-8c53-48aa-96c1-b06a5df809c1 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b024d76a-a4d4-4aa7-8236-b899cf19f02b CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc800696-c3ec-4ac6-bc36-e620de190861 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dd5ff70-a3a2-4bd2-bb2c-548265349ffd CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb235ad-db79-4f59-9f8d-173beaec3486 CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3f79961-c04f-4627-bd2a-9b04c3dc37b0 CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b9c8a4-20c0-4664-9eaa-ab989eb0f1e8 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40aff8a9-5e42-45fe-ac25-948b71d23b90 CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4456058b-ac83-4d1b-af48-51bb10f57be0 CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b1ff624-a88f-48a2-a5b2-2a210daa21ef CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c0f62e-3f2a-42d4-af09-c417511303b5 CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e47f4b1-f936-4830-ae08-e48e3ab3a0b9 CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de02c876-410f-45b9-bf47-488a6d9f5437 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f762838-7d50-446f-88e8-82209d245269 CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4399a0cb-df37-41b6-b382-b6572536042e CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8389c4f-0633-451f-aee6-c66eb7cbad75 CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cdf458-0822-45a2-9bf1-0387980f8318 CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1b129b3-daa0-44e6-8a43-0cc108b8ef53 CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0c3a97-5667-473c-9a91-6eb4d83c3052 CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3403a9f-6adf-42eb-bf3c-af394fd55d83 CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61ff427-da5c-44a0-8816-5d67dd8f63e0 CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d350a1e-855f-45d5-877a-10cfbce5fcf9 CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca9db55-eff6-4d62-977f-994f8a44aa6f CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be845b63-f743-41dd-b423-71a7aef7c43a CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0297c396-f97a-48ff-ba6d-73efa9c413ba CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b873bdac-3e8d-4d10-b260-1796af3203b7 CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3b89db-826d-4cc7-aa76-2af4b160bf11 CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eafe0bd-edfd-4bb2-8c0a-37c44faf73cd CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25aa52d-2fdc-4f58-a5be-4031af889222 CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d0f3ec2-56da-475d-8f85-2f11c36539fc CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18cc0835-8ad2-487f-a19f-be449e712905 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f975103-e3f6-4c80-8618-265aaa896ced CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea435c23-7a5f-49f5-a3d5-62f56bcbfa76 CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fb17d25-7432-43f3-a21b-d5ea8afb3a62 CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ccecf5c-4419-4a86-b28b-633cf54787af CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b61681c6-9b1f-46b8-a345-83191bc730bd CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f46ce1-6d46-4678-87ec-f2fae574c0e4 CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e7a7899-81e6-4239-8323-da5eeeec41d1 CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd615666-a5b0-417f-8fa5-23bd9a7b8a53 CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86142a4a-422c-473c-b062-426fd18b2702 CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be54c71-03d9-4ccf-8e99-bb655f9abe42 CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 405d96a5-2e6b-4f53-9064-ad128895818a CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2259892-c187-45f3-93a3-61b8e71bdcf7 CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 383b40cb-0389-4834-ab72-2ae62f6a8dcc CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b602e82a-c1c8-4a28-846d-543ba63a6472 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dfc93a4-34d6-4135-97bf-38a2c195c3ee CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f59603-1d26-4dde-8a2f-831f6a5eaaae CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f1ca7fa-5973-4d6a-a207-7440704c38ca CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3f636b-349b-4db3-b427-52880b1fc948 CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbd9d94b-01d0-4b09-9dc4-001d2304bb61 CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3d192c-761f-45e4-9839-f15f5074110b CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 761e4eed-0266-4bdd-8e28-d1daa72c32de CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329e8d3f-2c2e-4927-9a5a-76529a59d814 CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c45a67c5-8cb2-469e-ae8b-bcf442fcdf66 CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31050c1d-8607-4e00-9f15-0740cb6da96f CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd30e648-1d85-4ed1-b1ea-833578f07a7b CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385db68a-1e1d-446c-80e5-e3bf21eb68f1 CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b85a621a-615b-4677-8dcd-babfe078a0e8 CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95cc6e0e-bb58-4b74-b77d-b7084deac55a CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7ba6f3-330c-4e6a-8a58-e65f711dcb4e CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d47478da-46e5-463b-bbb7-07ed8aacc75d CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44b9a5b7-fbc5-435a-afbf-d963384cdcb6 CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56890613-2f59-453d-989f-8132c12df3a3 CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4f82137-dedb-4d53-8c86-fcbb3606bed1 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5fc298-0d4e-4226-8fac-23da4da57f25 CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77ff380d-0b4a-4cbf-87e7-1d622942f670 CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f927b01-e867-4825-94ba-5d02cb637d0d CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab65b0f-5e9b-4df8-9072-231aae6a8dc1 CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ff0589-2bb8-4df2-ba01-350c261ca3a3 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbbc5884-cf0e-4659-bb87-e7510a3033b4 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82914ae0-7355-4b3b-81d3-00221f15033e CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2370221d-cb65-470a-8870-08fb4697a01d CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8650e363-8fef-458f-9160-6acc2d4b1719 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e31012a-16b3-4e47-9148-05c9a63d20dc CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838eba9e-4fe7-4d88-bb78-8604bca21a41 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8d2c90-4a56-447e-992f-a3385fa5de6b CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3047ab78-1741-4223-b82d-581f42ef3c54 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0376a2d4-9a3b-4c65-91b1-2b7d338c03c5 CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4314377-66d3-47ff-8b18-1dfd7ad2725c CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede53b97-3c3e-42d0-a836-9d9f85269418 CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f445351e-b6a4-4669-bf83-b534137dcda0 CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9663117e-6e70-421f-94e9-a1baad0ae2ca CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79646307-5798-45a4-b740-7e683c72ef8b CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e659d6b3-405f-4bb6-89c2-188a89727f07 CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8fd07a-254d-472c-9dfd-b08ca947860f CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bff2d1ea-68d5-44c6-8153-065157fab5c1 CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4a3ab5-f7c1-4211-95f5-e5c39d94717e CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 154bcabf-b10c-4bba-b30a-7c3a5d6c37de CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3724ef86-3236-4574-b794-7d20538bb4c6 CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4bddd34-3364-4c05-b2eb-bca4aeb3abe2 CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5dda37-f99a-4622-a35e-7b4b5c9cec80 CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4962a0e-1a64-472f-84ff-e107cc347ed3 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937d027e-e657-47ae-be94-39a462c372c1 CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4908f40b-4413-426b-b9e9-9267f24877c8 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2957d21-4222-428d-8217-58a8620f4ab7 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 053c92e0-32ab-4396-9516-6ab4b6bf3a96 CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7078f0dd-dd32-41f2-b1ff-b9b399e54328 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09ce7f80-9fe6-4102-aeec-f8db470afa72 CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9fb226-380b-454e-b5d4-60049ef9efd8 CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ab00267-4b4d-425e-9c2d-3a53e1fd1097 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea32777-e3bc-4246-8eb8-91ad125b2297 CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4df5aece-43ed-4ce6-87c9-cc2af9696667 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2dbea0e-1519-4bfe-83c8-058d5cfde30d CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acb0ce8e-f368-4cd1-bf05-6bccdb02ae16 CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169236e1-fc9c-4cd5-b77d-93e67a133048 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b454064-8472-4310-ac03-f3c93e906ac8 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98449448-08aa-46ef-a843-1dc1acd624ed CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dee86d39-ef87-446f-a1b7-b1b0c994036e CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8701c1fa-d4fc-4f6a-bb1a-3b56fd2799e4 CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de4bfa4-7a5c-4c18-b724-b761b1d2c394 CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd150b7-13ee-440c-b106-b7a2a70a3066 CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68ce1aec-929d-4453-8de9-248bf009e2d1 CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e504dc-7abe-4eb8-a61a-b8b55a5ae13c CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 698598c4-e40f-43c9-9a56-d5e0c2e788bb CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad56163-fc5d-4748-a690-753d679fd2e2 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80883f3c-6b87-4259-98be-867d84ead201 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee30d96-18fd-4ff7-b50e-d0fb2d55e80c CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8284b058-2028-4083-aac7-857c07a65fe7 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb2440cc-c388-4bda-b114-b0e5a25f43b9 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 045fe859-afc6-40b5-8367-c9de10738ee7 CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d22e697-bb55-4ddc-9cb5-9fd1873d671a CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4213d24f-f058-456f-bc30-0167f960524b CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bed1b3-0aec-40a3-9f2e-4afeb5cb7e2e CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35afc3df-8878-4263-afa8-a93927b07c7d CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39959221-be51-4329-8daf-46b0ea962d83 CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ef0f92e-a6eb-4b63-ae4e-cbff995abe49 CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0577a31b-88e8-49f6-a8a7-c553b68454c9 CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e1021a8-1435-4480-9256-6fdf4b49f808 CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1863432a-a8fe-42ff-aa1e-cfdb5972c9c3 CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb9b122d-6edb-4aa7-8668-79b490515e87 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed0259d-de7f-409c-8ae8-1864310c3113 CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 320084fc-31c5-4951-ab59-c553f88f51ba CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7351bff7-1c7e-4e34-b522-07c89684f6c7 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62271c75-9b0f-470e-a3d7-c97f9fc7c2cd CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec64bff7-b99e-4245-8609-4912d4f691bb CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e48ff25-1a40-4aca-94c2-e6c06673be8f CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84143edb-fdf4-43b1-b692-3f84a1073f2f CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77b81636-a222-437c-b542-8482cc797d7c CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f718f674-0640-4767-84c5-c6ba41d5767d CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77e75904-6b0b-4715-ad4b-fd8e49a36c9c CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99dfb2d5-05b1-47ed-8c66-e18323389c73 CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 685b7a5e-e110-4393-978f-a4a139a604f3 CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf85146-fbb2-43d1-900c-90f87101602f CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c11c67f6-fb49-4d28-9335-2064bfb98f43 CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92155af3-5a8f-4c17-8cd4-75d531518918 CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89e0594a-7db9-4130-ae6b-cc910f2bfa62 CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fb5599-0622-4f26-9f62-28a5191d978e CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc156530-531b-463d-9bda-dfc6ff2865d8 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89aa73a5-2ee4-4449-ae2a-c7379a555924 CAID:CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4323245-5859-4953-8aa8-cf92e53dcd9b CAID:CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec5c59c-b5e6-4dbe-92cd-314f7ba38da3 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fbcb9fe-6ea1-403d-8d49-ffe59fd44145 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28508e45-2d3f-4b77-817c-e27534075fa5 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e04033b6-f4af-4b24-8010-3bc2b65b8b9e CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1ce31f-ca9c-4151-9684-3fe883ccfaad CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6627c2d-56a9-403b-a609-95a31fbbff42 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d5c204-6230-4fac-bdd6-e29b59d65afa CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 208689b2-2716-49ac-af9a-c733c9522546 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e402cd6a-3f93-4a39-ab5c-f3e7cb568fee CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0042317-ef98-4742-a83d-c736f146e82a CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea96bf05-6097-474b-9361-b3ad5c0f668b CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a1bddfe-830f-4773-845d-b1ff3deb0cb9 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38bdb17a-ca31-4bf2-a1b8-2e5ed5015913 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49c3078a-3e14-4243-b838-07e5c3166a7c CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fca168-0bd1-404d-ad6d-c3afa62b6040 CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57f7b66a-32bf-43e0-8b5a-75bf5d296f5a CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552448d7-e1ee-4578-9cb3-1077e8ba75dc CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0176832-c8ec-44d0-9774-a20c1392b1a4 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4878c690-dc5f-491c-8186-c48e295db792 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83d2958e-1e6f-42ed-ac99-b5aec9242bdb CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52234881-a83d-4cc6-9356-00d43b3879e6 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c4eed8-46a5-409d-bcab-3b7c881f8159 CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7721d445-5da9-4e5a-baa7-34187125200a CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37406cb3-37e0-4132-9d86-44c4cda95b24 CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323e988a-0450-465e-9ae4-1baa4217d409 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b2016ff-6579-4e11-90b1-47c4862922b9 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e5d04f-c1e0-49ba-9f60-691fb0dae0dd CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85021825-00cc-4c0d-aea5-935c5dddd014 CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64991637-33bc-46ab-be38-97c04539ac59 CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42a7d941-8188-4e77-9320-bbb7c5dd9b12 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4abd294-7434-4f10-8525-d5e360226bb1 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10d705a0-f5f0-4ec2-9b28-db6ba55a7a02 CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24428ec9-458a-43b7-9dbe-165b58776888 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb1ca2bb-e10d-4069-8f62-4a822e776834 CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02416c80-36e6-4316-9215-41c4de390045 CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e296d319-0f6b-4aa4-94b9-1826a75d84c4 CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be5eb05-0e00-4634-b68b-11813207bb53 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b79d1013-933f-4e08-aeb4-9ec623cb33b3 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b199500-c686-43c9-88fc-60c299b75bcc CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88be5464-63c2-49b2-acc7-a3a88545cbae CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28c6371-5fa7-4467-89cf-13d29b295f6b CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c6bba5d-07ce-400c-a259-4fc29516b7ac CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2178ebf7-93a6-453a-89c6-790c326acbf3 CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eab50966-c893-4ce4-a7f6-e44de461c703 CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff737991-e439-4f64-83f3-dd4570e3776b CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89db3290-b848-44a5-b471-ca1808d3f985 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44fef0a-b92c-49e9-b74b-c8c057d0c84a CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68184fe8-f337-434d-b10b-811a8c756ffe CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8875d51f-a7ae-4204-94de-6ad851b26487 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19666de4-5810-4f43-96d0-6aea92651a17 CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16ca21f-ca25-4b00-ab2d-8921e87e95af CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94e3e115-42d8-41f7-836d-3a77391a4073 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec47c2e6-a298-43bd-b991-74410ca7b67c CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec0d54ed-e784-47e8-b4fb-0cc4ac26e219 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7543a794-2e69-453f-a294-c7bcee448a9f CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdb131a7-1d25-4441-86a0-58e7e5f4718a CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fade1e4-4856-4e46-930b-f8df63b03d06 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a2180b0-bdb7-4072-b0f4-2b2fba575a68 CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94bb3e4a-e021-4ace-a9a8-59ed0cf0e6fd CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 537cddde-d5e8-42c1-89f3-883c2ed5e3fa CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c0526c-dd8b-453a-a89a-c0d03bf5799e CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab961cc6-e72f-4445-a9cb-a348e50c66bd CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa09613-f187-4ae1-9543-06f0e9986776 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0534eb94-3435-47e9-a18f-e9376a990de1 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94928427-3317-4ebd-b248-d051802aed05 CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5eff5454-5bc7-41b2-bf01-77c5012feab5 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea6cf0be-3e4e-46c0-b14a-dc22d5928841 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0788f69-70ab-4005-95f1-ce4029890c7d CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e51420-0b05-4987-89ea-75953cdfc1a3 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80e73ae9-5d3f-406f-ad5b-487a3b672c39 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18ccf9c-dabc-4229-8c5f-c4e60e48070d CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c98d0b66-d2af-4fa6-90f5-4f83246fd5c7 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d4991f-4a2b-42d3-829f-948c0bb40d91 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bee66282-9ca4-4662-8a80-fb2502f92aba CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2e9107-48d6-406f-abe2-3583bb74bc46 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8f59181-dc95-46a3-a610-a8c3dc89a32e CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d1a578-af5f-4bb9-9caf-c14c47d2d960 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7aa65ff-6bb9-4be4-afd8-4602ba7ac5ff CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d67dbc-62a6-4f45-988f-921beb1c253b CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f35aaea-612a-4915-b90a-2a66e49f97c7 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674697da-fafd-4300-ac7e-0845f74407ba CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0761679d-7bb6-460c-a823-866553a9318d CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 412fbc07-c9c6-4ee2-b564-effab40c48da CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3dabab0-59ef-4fc5-addf-46cac3466e94 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e63206a-986e-48df-808b-42581e62dc64 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60045918-2abf-4b40-bbe6-37ec43cc66ce CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ed2d2c-1f68-4f87-a857-9bec82ac73ac CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b630088c-c8f3-42a9-9737-b666c8619f64 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ce7ad1-6f94-499c-b6a0-354226a68698 CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14d72c9d-d828-4b6b-856c-d011f6e4e7bd CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2967ccb-62b4-43d4-9f81-defbfde260e2 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d87de668-dd5c-49b5-8bde-1ba2e617f2de CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee61e659-08de-42d0-95c3-116a45497f71 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f743f45e-69b4-4134-9f2e-394f74e9db38 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327f954e-09d1-449d-bf24-b4a453c2d662 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2395b56b-a443-499a-a6f8-b4fe367cb7eb CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f01146-a7fc-4028-b88f-f57d5f17e257 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd55ec1-453d-4b12-9daa-419f2a94701e CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1df34d-5eb0-4385-abfa-4cde60e2df70 CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a5a3567-0407-4fec-ba30-1284420d723d CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764325aa-1012-438a-9e90-bd4e549ed7b0 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b2871e-311e-43b8-aaf9-b4866e266ca2 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e65019-c0c2-4b8c-bc28-fbfaa829fe3c CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 219e8aed-d2be-4f62-a4da-0dbd69ce3c9b CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e44706-3b78-4a54-8eff-9928cefa3d27 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0097b4c1-3aeb-4c64-a39a-b9f7efd7013a CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8183ce7-3034-4755-8ee8-e16705544619 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b3127f9-475e-4116-8cb7-d1e2ab9a0944 CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe67c03d-b69b-4ebe-82ee-4038bce7d1e2 CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff4cc314-3e59-42ae-ae8a-65876b9e7d78 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b009092f-1922-414e-ad06-e18a025f1a10 CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba35034a-7399-4c05-95af-c008c1b861eb CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0791f048-4bde-4b6b-8577-372ebebb8a2d CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79eb5ebf-da9f-491e-b503-dc54d4e12cfb CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aeb26e2-714e-4c68-ad3b-c6f1f8eb6b36 CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79541da9-90e1-4d59-96ea-b445ef4a6bbe CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3abc57-676c-4543-87d7-ab2bd94eb4c5 CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f29544dd-9dc4-4ba1-afe9-b5e1190906ac CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41628e0-d583-4fa4-9031-f2d1f5e2785f CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ca3d89d-028d-4044-b3f7-b9d3be1ff3bf CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d89a7c-5e90-44b5-b115-217c6c8219b8 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e86270f-9929-4f2c-9d34-05090878390c CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7e1720-fc8e-481f-bfa1-1909f42eec08 CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1aecb4fa-4c73-47ad-994c-9d5b05501d4f CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e96830-1405-4154-9a4d-b5c05483e547 CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc48d0c9-15d2-478a-bfcb-a283b0628bb0 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d1f814-3d9e-4596-9ee2-11587577afd9 CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 148e40d3-bb92-46dd-a877-614448bfb6ed CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b86c85-8e3a-400a-85da-7dd39a115ef8 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d0e2cd2-d754-46b1-baaf-ff91c6e4b7d4 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd0729d-6420-4ead-a21e-b2f97a26b73f CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1fcfbf0-eb64-42eb-8817-687565c49dd5 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03c5c95-9b7d-43c4-aa9a-f9818cc530ec CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a298141-fdef-4eb3-b6cb-008da6301f12 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ba3689-7f94-42ef-a1b7-fb36fe21af08 CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f324be11-6c1d-432b-a8c8-16614d6b2de5 CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331cf918-1d4e-4742-a7f4-cd921e35a1df CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a05d6b18-cb91-4e29-88e6-63c0f9b5f8de CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab954f63-0d8b-4ae2-bc39-e9f6f93cfebf CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1212423f-c14b-415e-bb6c-5474d8f265a7 CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83db097b-b309-4594-b6db-c034129818be CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 685bcd02-e19b-46a7-ac1f-37830cd10d1c CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13c1928-3d61-4e7f-a871-5528483d3790 CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c888c573-a5e8-49ee-8991-0b661de8ec8b CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2cf51d-448c-4686-8402-3a7893323b11 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bf5ee88-6e40-4885-b007-bbdbe7c06d8d CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11856d67-926d-4fa5-8548-7890d26d15a9 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e63d6f34-0af5-4fbd-82bc-8987fe7d7bd2 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ed4ac6-6a74-4180-ad8a-be33986dffd5 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991a9e60-9a00-4612-b43b-9e1b1944acfa CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b7201f-008b-4785-9968-e53e842e8df5 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2e6f384-ef26-4aa3-855e-ccd116718072 CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6599d6-03e5-49fc-bcd1-86069546e00c CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb6ed315-2abd-4c70-b172-7e475ad91d11 CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467fc25a-010b-40e8-ae2b-e4c6b9378417 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ade06b3-1606-4370-9fb4-6b7dbfa97db9 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8904c87-b16a-40c3-9fc3-824a482b3a2e CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e908bdc6-c3d0-475a-a031-a355001c5e4b CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac82330-95c7-4ad6-ae3a-5a012f2b81ac CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8824f4ab-3c53-4d90-a121-6067dd2afda5 CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b461347-c7a4-4c24-ba30-df8c61bc5503 CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72463dea-edf9-430c-b4fd-e1660a231cea CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64079124-2b23-4644-a16e-5f7a25b63c01 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbe7ca7d-0a6a-45c5-97f8-a688f0a23b2a CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8799deb-bb24-4896-8e98-b110f7f33211 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 354ea201-f849-4148-bc4e-be38609b0864 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072fbcf0-6a07-46d1-b98e-5b147d9273bc CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bc7429c-685b-404d-ac98-26f09ad9147d CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a8362d-9eb5-4154-b850-c8f8f8d1b280 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 409801ba-b718-4043-b585-8712ac87b225 CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17662c5d-d151-484f-ae9d-55799a9e3772 CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d305c57c-dce7-44d6-8204-22d4b7e294f5 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e355535c-735a-4ade-be07-77584384c2b4 CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3d8a7e7-db97-4028-86db-22220fefc018 CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73b0a84-4439-4c16-a81d-532ce97b59c3 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 580fb6c6-e3e6-4b57-b8dc-ba1221e85a16 CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688a8f2a-2d77-4ad8-b362-3671dfccc7d0 CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40cc8596-5d8b-450c-8796-b21fbad1e66a CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8ed460-9c45-4ca6-a9ed-9da057a655cf CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7140b34-5196-414e-84cf-2af222306289 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b941c9bf-2770-4c33-8415-d5483e68c9fd CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28610ed-8a58-432f-92b2-ab50a3429c53 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ee6912-6919-4562-87ae-414468330c54 CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b061106-5e7d-4646-887d-c87fdb866214 CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70bf0553-ea4f-4624-9bc1-4d96f52e568e CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 812d8c2f-2d55-4f90-9ea1-22b438697cfe CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287ab991-c0f6-4852-803f-f5796e0f5833 CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 860256c5-495a-4d40-999d-775c90737ec3 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec74c0e-5d40-491b-a667-d7850aa3c5e3 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d58563ca-3b42-434d-8f0a-107fe002328a CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7590879-0a65-4bdf-9b5c-fa8684ccbf96 CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a07f745-2455-44e3-9574-f00367016ceb CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12560923-2c75-40fd-80fe-78e5915f74b9 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4aa5d8c-138e-4de3-a4e1-75d2b1cf2f5e CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9042886b-e546-4b2b-87bf-f5c00ccc6458 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81bc905d-1af8-4999-a725-9460ad25952f CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f37132-1b5f-47bd-8b0f-018f0960503a CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abe9d2b7-3df1-43ce-a153-cee4610766fb CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b90fc5-c8c9-4e0c-9ef2-ce5b4bcfaff4 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 698c8979-d963-47de-aba9-26bed3df31ce CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40698d7-26da-48f8-9380-73110188443c CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 798aa54c-bdbb-4993-947a-20debc121593 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac38af8-281e-402b-b714-93308af105c1 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42d3b812-b03f-4d51-bcf9-8c58e63e5cb2 CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3593900-1bcd-4b85-9f9d-e37a4418bff2 CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99404aa9-0fef-4d4a-8807-423e1d0143de CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2daa50b0-2dff-4104-a406-d66754c6cfd5 CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3914a33-f466-4461-b8ff-e34329411d51 CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36ba2ad-e0de-451d-bc04-3862e5918e44 CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e778d7-3e50-4811-ab61-54a09e2254cd CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b58ba0-80a0-4ce7-b0eb-ff7eab230e0f CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 948f4067-7e53-41a3-a3b1-c1dd86844b40 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed12be0-de0c-45f4-8d15-213ac15f056a CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b76fa35b-502b-42ab-a1c0-b509fef9003c CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a0cf85-9081-4a73-84c5-392b07a7569d CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53dac654-b24a-4192-a70b-eb4d8dec403a CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133dd36e-40a1-42f2-8d71-719cf9809e28 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8170baa3-81b3-4b38-9609-2a6773d903b7 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0affe3bb-62e8-4e7b-b0b4-190b5e4bc823 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe6ed169-97b0-44c4-bea3-28dbfa935cfa CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63592858-52d9-4440-8367-42913447da7f CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38119afb-9145-4e1e-a688-346d7442d228 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c606f68-65c9-4434-b295-1b8094c371a7 CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b0bb8e5-5518-43d8-beb6-08a06adec83a CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abdaec0-eb13-4081-9259-e903469225d8 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c76f249e-beb6-4df0-ac8e-25872e4cae47 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6459b73-552b-4267-8aa8-56d197b965b4 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1465434-ad0c-4158-92b9-9095016eb11f CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3fe97e-2169-49d9-8def-366b2570e910 CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cf2a7e5-abfd-4354-987f-63c43e58d970 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a149b39b-0cfb-4cbe-9996-285935d8fa2e CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7396ae7e-d271-439a-a7ef-143b26119e7f CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab0d39f-fe6c-46ff-a870-1c13aa9a7765 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dd84440-41f8-4e8d-90e9-966c66831a06 CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a4c6fb-e8e2-41ad-b479-9b1f443141d0 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ea963d7-e7af-4d80-b193-593d007d08f3 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5602db2-8c1d-45bf-9efa-903f3ba700f1 CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a783153-caf4-4986-9b87-331b2ea5c2b2 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5b4724-ae6d-4732-8487-4f0bbecb0517 CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ea9d80f-533c-4f31-8a5e-0a8c121860b1 CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4809a1e-b401-4fcd-a4e1-4969e59047b4 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73932180-d9bb-4f23-b847-e5bfbd4cf4fc CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9953ac-5cb3-4b48-91fa-dd2cfd437043 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3145033d-fc4f-4d9b-8633-9c69f6b368a2 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbc1967-64f9-4455-b47b-8412ca6906f5 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f5e303c-197a-4510-810b-2b41216f2401 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db79e781-27ea-4d1e-b494-60428531c509 CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5928fd1-3155-4d99-b11b-653da7d328e9 CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743ad32b-0a7a-428a-8de0-4afce424152e CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5458dd4-ed95-410f-b81a-6009872f51ac CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dddfd13a-b766-42c3-9f74-4163c0fc03ce CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f9ec37a-3368-4593-a610-bcca7d08c2d1 CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e0f241-f2c3-4ac5-84e2-c28731640826 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4bdaed9-ad75-47d9-8d25-bbedfad37369 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15923e53-0253-4633-8a2e-c397aaa7518b CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 952937c7-62dd-4886-ad4d-2bab235a2831 CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba9a999-bc8e-44d7-9332-c0a37107b076 CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b3e63c3-092a-4954-9fb1-715b8f8715be CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ecd117-2ad0-4b83-bdbc-faf22921060e CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc932517-7000-4ab4-9f09-f625b18ecf97 CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc98578-8e2d-49ce-b7ab-863da25919e0 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a085445-fdd0-4e9f-8e72-76a03ee02863 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759d2b40-062b-4942-b55c-da099c436bc1 CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9711d6d-4262-4466-a092-5151378919b5 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd12c5c-2984-47ed-b248-3388be767df2 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0b34d96-2cfe-425a-8dea-ce9823a21bd5 CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce07540-09ec-4234-bb87-513f611ee0a9 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db6573cb-ba00-4867-b7b4-1d6c3bbcef81 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac87fca-f552-49c3-91db-39c1b6334937 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9880648a-f242-4a92-9ade-477163411d9f CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d6171b-a141-445f-8ca7-081e83b3c41c CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2992a94-c1d7-429a-b395-d11d6b0c0a6a CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cddc21ce-fa5b-496b-8a79-d1c3451c44d7 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e3a1c6e-55e0-4efa-8b5f-cdfddc848c4d CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182c9d5e-3f9e-4ed2-bc2b-6fb093486ccc CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c86a765f-d513-4396-b89c-b54dad8d26b1 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b0d4c2-fa80-4adb-a58c-9f7001ece632 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf3c1a0f-d788-4ca0-a4c3-3f0bc51f44bb CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00945d46-bc16-4ede-ae60-08c3278944e0 CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9039711f-5caf-4e00-855e-5c9b3e1b2975 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3d6663-edf4-4602-8640-1b94fd613240 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cada563-5126-431b-9ba3-38c6788b00d0 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08c0d28-5ff4-4577-a852-29c5bc72d239 CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54c3d114-7614-48f8-8d2d-28a6b61b67d0 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2675053d-3e26-414f-a520-6303a23c24f5 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b10fab0-7d90-440b-9af8-bd03209b2837 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d087cfa-b78b-4aff-9aa9-0faea40ff27f CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef666147-9624-4c66-a87a-d9eeb85db577 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716f8cdf-f0d6-419f-8918-58e97be85245 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a727e36f-e10a-4858-a6a2-70a0f96c483a CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17bc59e-76b0-42f9-988d-ecaef046e9ea CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f72406a-ce8f-4570-afc5-7526ba069831 CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3dcb70-c5c7-4f03-8d20-fccca6dffb2a CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9576131b-793b-4616-ac86-7758550d6348 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a173e11-56e0-499a-8e8c-1f0d67509b8e CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 523b4328-4d20-4bad-94e4-cb4aa39f9bc1 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86f67b9-476e-4516-ba00-4795267f0116 CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94ce6849-87ec-43ac-bfcf-005150175349 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81ae4ad-5166-4594-afe4-5af0bab2eb67 CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c60168f-dd25-4329-8624-a6512c63ccaa CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51191182-3362-4a7b-9272-bada19260552 CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9539c9c8-b052-4510-a522-1c8c2a26154d CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8b7ed9-14eb-4acb-9112-dba2225f8dc8 CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7a391df-71bf-4e2a-947d-9d4a7ee55864 CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67e8b32-d208-4266-8a01-35d1daf1cf5d CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99f01f93-c9e4-4360-9240-6ee3360c8df2 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d714357d-c7e4-41e4-91a3-774a413f13e1 CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f10aa5bd-bc83-4077-9ff9-080b91e21ab5 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb7d0ea-0297-4ea5-aa90-3fa60d126c41 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9576893e-d111-426e-82d7-f7627f8b030d CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7fb991-0c2a-4e51-b2b5-951921ef1792 CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8534fe6-aca8-4bdd-8268-4d62bb97f2fa CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9e0803-4d0e-4853-bab6-446dd9eee3e2 CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70ef4afc-6166-4b90-891b-428148f8c281 CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5a61dc-25a9-4f58-8821-db2ee8eac82c CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ea057ae-f275-4311-af5c-f1bedcc60e49 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726d9ba9-d4f3-4aa0-9ce8-bd99e86b084b CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99132125-29fe-4ef8-948d-c42087f0f354 CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b74d46c-dc2e-46df-8a69-665b2c30de17 CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe3f4973-c61f-44fa-8043-d73853e881cd CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c90bb22-764a-47b5-a5be-6744108b031f CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b15ddd2-94d1-4ff8-acdf-0343413b9cd8 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06283f51-54b4-4ed7-bdaf-fe80f1dacb3e CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da2061a1-9fe3-49c0-bbbc-1cebc780716b CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fc85f9-fc9c-4c08-b264-c7469deae7c5 CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce90cde1-8c09-4cd0-9367-ab82b3877e88 CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3953af53-91d5-4c0b-a56b-9a7c6e0e444d CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 799bb924-168c-433d-be61-7281ce3cdeb6 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3210ca-a430-406d-900b-71c476f444ac CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5530147-47af-4e00-a152-04aa1621a6d1 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480bd232-6d73-44b8-a275-3a57e4561b05 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfc19a67-bef1-4872-8634-7b6d4714c427 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c32d644-0fef-449b-aa0d-d9a9b500ac41 CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d23861c6-3a0b-4ae7-9a83-9c90bfda03e6 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f8da6a-205e-4865-b95d-b8386ae06f41 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04b3c471-322d-4607-871a-0511be9db2f3 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5008ea2-a5ce-4204-a1e1-7e51fb5ffa55 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33f03ac8-cdec-4e11-b308-738ce7e076f0 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983982e3-ecff-4386-942f-c6f58436dbb1 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa5b6cec-a659-4a78-acb0-28df13f3b28d CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6598f01b-4ca6-4781-9747-5ce3452ce183 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbe0fc1a-5d5e-4a3f-b665-d0b7113abb70 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ec1834-08bc-48e4-b887-01aa87741686 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e93fdf5-7c3a-41dc-a662-63cdb8fb3de3 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd8fda8-784b-4c6f-b5fb-e8f1f1f0385b CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11f06e5f-e670-4577-bc6b-86eb97b744d8 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6b7caa-bc7a-4611-b23f-28099bf96a1e CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59317fa4-40d6-4546-9df0-d8119c1cee08 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48422682-f190-4bfa-aaa9-0244a0e65f99 CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39a47f8f-ffa4-4fee-86bc-585647448982 CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da62a37-d969-4a85-bb1b-9737b40ec515 CLINVAR:1699993 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2920a341-fa57-40bf-a2f4-e3bcc67fa165 CLINVAR:1699993 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a700650f-8b2e-4479-ab85-0e32ac674534 CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f1b801e-b3a5-43f4-95bf-f9205cee321c CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a6c44f-e3f4-45ad-89f0-e958087a23ca CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506539d5-a02a-4df5-8c37-d6d03d85d477 CLINVAR:1699995 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9d1ed6-301a-4de8-84a3-a72b9845cdae CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d84db85a-1680-49ec-b083-69b3309de23b CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c616d78-c359-42df-9562-f23c960498c7 CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad8aa148-644f-4064-b060-d0a1d52e0f6d CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b60e3e9-268b-4cd2-a90b-1878389f9e28 CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cce2f3a4-15c7-43dc-ba09-e3766441c622 CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258cf5d5-839a-4fa3-9745-ee4d8b788c0d CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c12ca2-ef76-4bc2-b837-bdcbd30cd815 CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd7eccf-2044-4661-a11a-10118bf22d59 CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daa86fc6-f279-4d86-a046-faffb8025ce8 CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f54b88-eee3-4e4e-84cf-eb7f3c282b0e CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55a7160a-a184-410e-b2be-4c6a2997220b CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4b8213-00ea-416e-996c-2b30bf8abde5 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 078df68a-ec84-4ad9-b65c-c402e4fb1888 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd68f7e-1217-41d3-a429-97bcb3816d16 CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cf81b56-b05a-400b-8c6c-fcc50ac3d910 CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e26c06-463c-4ddb-9d50-735f7a6aba4a CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1db9538a-b486-4611-8f56-48f07ca1aee9 CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e8a470-2b7c-4a0e-b795-0ce5a76712a6 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7266f7ce-306d-4f1d-b7db-808eac541931 CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3526d117-1d48-4649-93c1-39d2481ba7dd CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f543406c-6628-4ebb-9209-f91b811a95a3 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5195f717-3e77-4dd9-9bf3-f301a809191c CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d3cdf10-5c30-40d7-b4e4-7841fa7a40cd CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ac10ca-fbea-4b2b-aa62-279b9f7d3853 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcfa824a-0888-4ee6-87c0-e9e34490ccac CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5276148-621d-40bc-9f99-766042369ffa CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edb9a4ac-2200-4a31-9c85-e823f5b692ac CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9261f94d-818e-4b49-8e5e-c7dd94da3114 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede2229d-0cbc-4b00-91aa-c348cc7d3e7b CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d410ea83-65a0-4be3-958a-c723ce4f3ba3 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 217ff7f7-fae7-4655-a9cc-b6958a832a59 CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93a9507-607d-4104-8876-8c45ebe04fb2 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f709904-df4e-4efd-a4f6-93efd34c48b9 CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a3d184-5571-474d-9566-3ffcda10a038 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f583e2c7-0b81-48f7-8a01-db38fe454d29 CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180305ed-7f7c-405e-a313-c68a7e49883e CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9336d203-20b1-4557-8807-440e571df28c CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda1ea6f-8b4a-48e1-8bff-ccf3c802b59b CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06b5f1df-ee4f-4679-a5ac-2973ddea96f7 CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c428c913-27aa-457e-a5c3-d1ab45090963 CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aab4efc4-069c-4f6c-80ea-2407181c5309 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13eb84ce-e75d-47ec-85cb-25335bde9035 CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e635537b-d61b-4ac5-975e-ca1b3f9c15ac CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502b9748-9ddb-4670-a751-67be77a4e746 CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9392da4-c792-4fa7-a797-e4cb219cdff5 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548ce587-64da-456d-aa97-fe0afbcd94b6 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7172d6c4-ac22-4096-953d-05290a7a5caa CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93edc79c-ac43-4b07-af3f-49f3dd4d22d1 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39982b3e-8cae-419e-ac8d-4774ffd9e86e CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86201ed3-a260-467d-8c03-7ecfb4d1450d CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd557ec5-f301-4486-95c5-ed4fd29321c9 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43355654-15d3-4a8d-b1d4-45ad4ea7b94f CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17cbe372-8c75-4790-a562-2328b235d506 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6ddef3-3fe0-4b52-a7d3-98fb454a9a97 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a8d185b-ab62-490b-acf8-ce914b721c4c CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb486210-44e1-453b-bf13-1f9e34682086 CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d93b2ced-8107-438d-8997-448b6c54400a CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225410bc-7067-4470-8786-13b689568f0b CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b149ed9f-2c4a-4bc5-b05a-b98f80bc1bc5 CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebf20bf-1cb4-4357-a8fb-144d3757077a CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae7f2cf0-2c31-4986-84b8-58d0072fd98c CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7a2b7b-aa80-4ee0-af7b-ac1970e4fdc3 CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 456b0e6e-3717-4760-86ce-d92e3ca75356 CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68ed271-1865-4636-a794-b7614dabe5bb CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74fdd04f-e653-4f88-9767-c493531b60a8 CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd01598-7aef-4933-b095-adb5729c2059 CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daae2146-5fda-4428-ae93-7f81927d61dc CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4c625e-6a02-435a-9cab-a51f3f389844 CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 078d370d-bb96-4e66-b6cb-4f86c0bb4666 CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd421671-295b-4f57-a6a2-1184a3b7c677 CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5965aef8-d92b-4042-aa27-9463bf2551fe CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819caa21-1c9b-471b-a6c8-007da43fa4e1 CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 489c023f-4cbd-4cb2-8b65-a91647f864f2 CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef939896-5a77-4e0a-a242-24215a1917d5 CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c924574c-c9c7-42c1-9282-70d4f7b338b3 CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfd4f13-9f7c-49ca-b17d-497bba2dd4ca CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86a47321-93ff-487f-bb20-af167e563f2d CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869d6246-abdb-40ad-a1e4-04a9d2abc2f4 CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ba0a003-0d3a-4be9-8a97-9c37f0a01eb1 CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95669213-4368-4fa2-ab3b-cfc33cde12d8 CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecbebd67-6738-4cd9-80b8-83a3e063b51c CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b8f653-42d8-4a5e-b635-a2141363b432 CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 814f52cd-a820-4fce-ad57-4c9017d20bbb CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cae7f9-f4e7-4f37-9617-e10e65526163 CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2df61d1-6011-48df-8b56-ccca05b2d53d CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e4d5c8-1536-4ffd-a801-096a35caf9f3 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22a50a26-4bf2-4056-89a4-7e86ed86d688 CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b289c914-c65e-4041-9632-bc7e1dfad482 CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1dbc06-b7f9-457c-986b-57aba27b281d CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163a7483-e880-4053-a66d-bc95660f6190 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8eb92d8-bcfa-433c-8f3b-e8f876100246 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0c3505a-b8bc-4890-af3d-4772008aef67 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1aed31e-9fc8-4c6f-ad6f-6cac1ff82133 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa1e5ce-7a45-41a9-b73d-a5f93b1dcbc5 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd18886c-e5b5-461a-b54d-24b10b1d86b0 CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 389c1bdb-e6f5-4c4b-b99d-feff49ce9184 CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 135929fb-110a-4493-a93a-45e61a3d150b CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1044e904-7650-4f2b-aea9-378784cec4fd CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6856f40d-cd2d-4e5f-be34-2fc4978dc6f0 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bb6731-3f7b-4cd5-9d41-5e72e99904ac CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51a86e1b-1510-466d-bdfa-95271edf64e6 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dee3ff7-baa1-4cde-bb3d-1f697048d896 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ad2297a-3554-40f5-92c7-cfe01d9dbc00 CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b97db3-9c2f-45fc-a5ef-03361419efcb CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2844abf3-a3c8-4512-8823-39c68b054ab1 CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a1dd1e-b491-4c15-ad06-9043b583a9af CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bf08a26-e499-4a17-b208-d15092bf803a CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40934973-c957-477a-8a2f-24269c3b7f38 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05d7046a-a576-47d4-b95b-572e744f12ae CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f801b36f-b60a-49aa-8a26-495c1fb7a1b7 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e069695f-05fb-44d6-8303-042a5e9be25b CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf86aef-82cd-4bda-b1c2-593870bf7ce8 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95f5275c-8098-44ad-83ab-b944d52fc1c1 CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f76d1b-0a21-4a8d-9c89-e9f1d5805f24 CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cc40d7e-67d2-49af-a34c-f99200f7266b CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6431cb9a-95a8-4382-a0e4-f73111202edf CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be022036-bcd8-4372-9f73-1f2b43eac579 CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa3e6a0-fa83-4075-8c78-a2cf8686eaa9 CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5b004dd-9187-45f6-a8b3-950fefae83bb CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97e9479-646f-4e00-9ffc-01477784d3da CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e18306f-ec98-44a0-9253-8dd1e4a70cb8 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4f952e-e983-43e5-b8d8-b29288c02ac1 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 505f9793-ec06-4612-883b-1f2b6ae78bcb CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37bb89c-1e64-4c83-8e95-6eb0d8de8b09 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55809ac0-5d86-4da9-a456-fe37fbeed4d4 CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ac7440-7363-44ed-ac54-f6c139cb79db CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3c11eca-4e2e-40b3-b982-8026f705aa31 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3d0bd1-b5f0-423b-9788-c2ec1322248b CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa4973b2-2eb3-4619-8b58-0c6cc7113540 CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c79a3a-39b8-47cc-8bcb-de6c25381068 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d366995-753c-4ae8-9983-4f5a4d4bafd6 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31be2ece-23a8-4718-ad61-2b469c6ddf2f CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1a032c0-af22-4e19-8d35-5939100150a3 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e534bf4-03ef-46fb-9e46-b980222d640b CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbbe89b3-d80e-4e30-830c-b0db26addb82 CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e99119b-b063-4f3d-a63d-fb029b044e19 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9371b0aa-786a-4f38-a3f3-b0b5e14474a6 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45db1459-d871-433d-aff4-dac4143d51cf CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d40f1167-b3d9-4beb-9dbe-c44b492cebf6 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece65a26-fde9-4325-9913-416c8103f999 CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21a0bfd3-da73-4e9b-af86-c7dba18545bc CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5dcd65e-68a0-4971-b105-323d8163de61 CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6488973a-f973-470a-b6f5-2744e0af36cd CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f4a19a-6e63-430a-ab2e-154cab2776ad CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 667deb6c-7494-4cae-8e65-dc1cbe72cf3e CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba733ba4-4b7d-4bec-8ac4-f3fc1862aa50 CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc6d69bb-6778-4777-9d65-50031784c454 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9034fdea-b0c1-4cee-8968-d3259985c3ca CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9aa364da-d2b8-4b5d-a922-5a7ddbff04fc CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4680e616-84a7-472d-9888-363b7b7b8c06 CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f4925c3-14ca-46b4-b8fd-6a64ce14cb65 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd05649-ee55-4c27-8c8f-4f84ee2c3881 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 112cce66-37bb-4dcd-8e4d-095d178a4cfe CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506d4ae7-dd20-4395-a07f-a81af3560f83 CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb2ba62a-4b83-47a0-9ab8-07aad3346f18 CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c6fec9-f955-4633-9812-5405918dce67 CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3677c40f-25a4-4c93-9f04-6d2ce489c429 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa02d2e-9b52-456c-9278-80ba8ac16a42 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7825e5f8-055f-4fc7-bf2b-d0608358b9d9 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad09f0c-57b0-4b00-a091-d001949a479d CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a78dc646-a179-45bf-8bcb-67d2b3d0290e CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f45e19-d1a8-4002-8359-4f5ef19b52a3 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d22f3b62-84c8-4d8c-a746-e804cdea046b CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed4cdc9-3257-4bdc-9f36-65d06d016546 CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7babc1cf-89a8-4659-9f59-3390fceb2bb4 CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7ef28f-99ff-4916-9370-52e5ea4254ff CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69a8ddaa-1202-47d8-bd9a-07b120d91e2c CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6dabc5-6741-418b-bf98-5fbb5f16a746 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fb04776-74fa-472b-ba4c-0bbd5b646697 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6043280c-9f00-4ff1-b883-be563dacc466 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ce45c9d-602c-4169-b350-72fa6624b873 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5d3fe5-9df6-4540-a129-a1782fb6dcba CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffc41e21-828a-422d-976b-1d4b2c30f7f4 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df716ff6-59d8-4a76-b162-fda9f7b0f156 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46a324d2-2b60-4536-b64f-a39dc344499d CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1098132a-aa54-4e6d-a995-08f5c2e2a599 CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10c441ab-1137-401f-b745-743f1afc797e CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7017764a-adeb-43c0-aa7b-4bfd6cb1b45a CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4c8045c-9b07-4151-8999-73db0a423e31 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2e847e-f65b-471b-8610-df24c4e5d344 CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b2a24a9-c640-4c9e-a1a3-4bfca2cf2eeb CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f49fdf-5846-4385-9612-347694610855 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d35dd1c-8a85-4730-8f5f-cf4d1599b5d9 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e232e209-8e03-4f99-8520-7ee4eb7cbe8e CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdddddca-b361-4027-9a2f-1fef3e189959 CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7600f50-9d21-4c03-85b9-f4a0ecbc3649 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eadac255-ea4f-4a8a-a4f2-11131fe74241 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0008c2-bee3-436a-a359-7cbbe197ead3 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46caf9bc-31f7-470f-9367-09430e62142b CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1fdbcd-5c5e-4ecd-b336-a096e2c82141 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a8bd9f3-761f-45b5-abc1-381473011f50 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa715763-1902-4a09-af70-f916881ef746 CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01c2bd6e-5181-4523-9479-42a4b0e14461 CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e55ad8-21fb-4ee5-adb7-310d3ab3d779 CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e47372d2-b812-4d74-a680-00415f133366 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e76c03b-906f-4248-a76b-47b404c6cee1 CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f207a231-2c72-4589-a271-b484c2dc41ab CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64042b8-929e-4e91-a765-4b1766505790 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdde632d-38af-4bd7-a6ee-f990e6e8fe74 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1bcf2e-ed30-46b0-99c4-eef6f07124eb CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8f605dc-1f9e-44ec-8f4c-69b5a3fc7de7 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211ca45f-c5f6-49ed-b826-0343136e66de CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82485eb2-47fb-4d69-9fe4-062563ba0be9 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4400a7e5-0213-46e9-9140-7d9aee3e3f19 CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 683ce423-2b16-4f19-a886-495e18affba0 CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658fc30b-a3e2-4d4c-92bb-d119a4f490e3 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5fc6940-e08e-4860-a6f6-00546e94b520 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb79aad9-077d-4714-8d28-fe6695677bae CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7335fcfb-74a2-4b7d-8276-ccb312c9deca CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89aa0c93-0708-4422-a26e-c612c97fbf00 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6ba1c0a-b006-423c-abce-135f66759ee4 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b48c3b-6835-421a-a101-c5a3385bbd71 CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 498d4c30-f655-4710-84f9-bffa143c2851 CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5ef065-aa49-48aa-991e-dc3517baaea6 CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc9283fc-0c30-410b-8b0d-fcf5ebd4680f CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9f19ca-f4fb-4879-9ec9-8fccf7f3858e CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18ff3999-16f8-4707-80ae-6706f8e49d1c CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8c4e41-3964-4ac6-9822-5ad6dae61422 CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae216854-4edd-44da-acbc-17df936563ff CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca54549b-b580-4e11-8c02-1b181fbf45fb CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7af4ab0-ff67-4b12-a348-b40e8d1cef56 CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fd3a91-8efe-42fa-aa9d-72b8beffa75f CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c70e4d3-8efc-4752-bf8d-c7d779230850 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88dd475b-3f7c-4e12-a0ac-587a7ad58e4f CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f46c23f4-21d4-45d2-b561-0ed21d28f2f8 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414ff8ec-b666-4115-a7ff-cafdd556c400 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11cf83e7-6d0a-44c0-bf0c-e648840fcaac CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c416c78-5da5-4a40-b30a-aef4fc7e361d CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e90ec36-1281-4aed-8691-8693f5449829 CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2ee261-f078-4d42-a6f9-0a83c89396f5 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a142649-6cb5-4612-8fb1-b3fc2d4a84a7 CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfd63e4-5aa5-477f-a7c9-7d7ed8eb4ed9 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ab19638-efc1-4161-a355-8225abd4ea7c CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ee6db9-ecbe-4f95-9bd0-43b81412f596 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 107ef58d-4e15-4cc0-aed1-e99e5b7fb7e0 CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7630181c-ab1a-4287-8fb4-e295834701cf CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7395889-a885-48e9-b0db-1a826a7c309b CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d95fcd-a800-4dc9-b0d5-9c766d80e95d CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 393d3742-17dd-404a-9ee9-337de93a7fd4 CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 886af812-afb4-4c2f-af1e-e48f34be3d58 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e4813fb-6649-4e20-a415-fe54def6af5d CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bf72620-7910-431e-8a62-7b66d458d6eb CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4669b96d-5109-4d81-965f-b2f1db611312 CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ac2fce-040e-4cfb-885c-da1ed2f0876b CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c905006c-af31-4d53-aceb-4bd32af7b4d2 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee0900f-7f27-454e-8320-1d50c27d96d3 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a906e2bf-c5fd-4dda-baf6-ca3a01fde802 CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17816780-2fe3-42d0-97fd-cba3a1072e3e CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ddf7061-1fb1-430d-b290-71d6be4397cf CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893f43c5-4130-4759-9222-225e71736322 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8d101d6-9d3c-4ac1-ac3e-53b3b2935edb CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644624f2-99fc-4c66-9698-86d3d6e6fe97 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86c9a825-e119-45d6-ae4f-63d5785776e5 CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a63f968-db9b-45dd-917c-f13843efb1fa CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e76b710-cf10-499d-b63d-dce909b49a35 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0561d56a-0b16-41df-9ece-18b705dcae00 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c674ac69-d379-46f2-9a45-3ec34a74856b CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b5c13e-4fd5-4afd-af06-55ca83ea3bb0 CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f010ed94-2f5a-4db7-86c1-9bf6b359d98e CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1476faf-7ad1-4dc2-af08-88322799343c CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95f46beb-4428-4b0d-876e-1c74b4df3b2e CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fe0c3e-2274-4175-a4ef-9542f6729862 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8853bcd2-7ebc-4b02-bf1b-b7dcff10b2ca CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55997019-47f0-4e2e-8a2a-a5e772731743 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 034e73ca-4eb9-44be-bf62-7970188451a6 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7686b295-856d-4eb5-9e98-8a49d3ab0165 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96292154-79f6-4adb-bd06-11690f5a318e CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26617e51-b1ba-4605-9485-f81060e6f13d CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d6eddec-4c12-45cc-8555-d75c69bed1ab CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3d839a-5f38-45a6-9e37-d890966c13d4 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f67cd79b-e80b-4f86-962c-7506568e54d3 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23ce40a-239f-4701-96a8-e57ef36e4483 CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ec7572b-1998-48e8-976d-592acfde4b70 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd438d71-e7cb-4f89-92d6-4739d85df43d CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c07f3bc4-ba8d-413b-bb38-4bdfd1c24ddf CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16593625-fa85-455a-9222-c1ff87f27778 CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fd8f122-c4bd-4829-bbb4-03b2374782ab CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf2a235-d659-4553-a97b-0f6ffe834dee CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc680abe-9002-42dc-847f-b860f93ef9f4 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e275129-461e-40d8-9e91-f3fabffbf464 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9266d953-e61b-4e9b-acd3-44a2abe49190 CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffaad806-fe34-4524-a76a-9ebced074b6a CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 263a7ff8-124d-4e25-bd9c-8be8c9973a34 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b880de-f61d-4bfa-bcba-81b1be92afbc CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29784a99-ac2d-42b4-b524-17e6cd5a0bdd CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3972835d-345e-49c2-b5c8-b82af37033d1 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d6b14c7-861a-425c-9b25-17d2f472ebce CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad9223e-f9f3-41ff-9ddb-17784b0b3d28 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71fd5a44-38a9-484e-88e8-a2cf8cf731f7 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282dab2b-547c-495e-9df9-a94cda653297 CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1804c80a-3bd8-4581-9781-217f2e1d55e0 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21da054e-034a-4449-8410-447e3b63a186 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec1d0061-97f6-4251-b9cf-d43dfe02da48 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31d465a-2c62-4755-a81f-78fc187acdd3 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48a2afd1-cabc-4ac8-a461-7319bd062150 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6610545a-2054-40af-ad46-9b13a3b34b50 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 229ee114-76b8-4068-8501-bf9427b7ad27 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d580fe7-edf4-41fc-9cac-44976f296dfd CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 310873b8-7ae1-46b6-becd-01c0eda32fea CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0c3f80-afca-4b6a-bb7c-6dddabe3da83 CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fdc04be-0ebe-4f25-a434-401038ca106c CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28338a72-df3c-4a60-8a5b-d0882c4ec977 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78ea7a2f-1b21-4c62-b0d6-711083038d18 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad7a174-ec57-4cfd-a630-50c8232506c9 CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3be445d-73f9-4b9e-bf9c-b15236394263 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96fd0fa6-9352-4fc7-8908-fb3ad7b84466 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caf36ff1-7251-4802-a219-157b53f5588e CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9ddd09-db48-4699-bc47-d1592cb5b57f CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e4fa5f4-0c31-4319-8461-87a17718b636 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80392dc-9d50-4948-b855-7b8721d5b5a1 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c88b16b-ea26-4ed6-a127-e2db3a4dabc4 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83ee013-115f-47a7-ae54-8d16eb1951b5 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 271f0aa0-e77c-4f66-97fb-46157eb45ea7 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6167f043-7e60-4037-aaa0-09f04cdfded7 CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71311aa7-402c-4ec3-a588-7ec3e23bcc46 CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9595a4-35ca-4597-8452-0b6a41284b0a CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8177a458-e280-4a27-a0d8-21d0105e6bfb CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41457fbc-ca42-4b31-a48d-7d22c815d8a3 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc7eb297-3aca-471c-b55c-37491485581b CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f31506-12db-4a76-9701-add2b2ca6639 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f792f113-b5cf-49d2-b09c-52c546ca2069 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01e23b5-7b15-4228-8ffc-5781179e7527 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a6395f-0e59-40e2-b9c3-47d710d572fc CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700dbf44-25b3-4c72-a32a-944bf70d2adb CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 468fcf1c-ed19-4b79-b278-edfe0d67fbe1 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b86c6e7-77ff-4750-9d9e-6cbf50663a1a CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8eed6b-e8f2-43d2-9eb9-e7ec29e6568f CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e867f3-51d3-458d-8d8e-db9dbf176281 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6794fbc-b6bf-4e20-b8dc-6c3203b56a2f CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad7d8c8-8942-474e-8843-a8d13976d727 CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 064d008e-3cc6-46df-9685-e1a20dd91208 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e9bdc7-58d3-4380-9242-7f66fc3a806d CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a8a4e70-ba37-4f25-81fc-5e6105379607 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f684e7-155b-45c5-949f-2a5a0f440cb6 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 785ee95c-4001-4e5d-aa42-3b8a5332ece8 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed324907-03aa-46a6-84f4-7ce4391d2f3e CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3714a022-6170-40a0-9abf-a5e2fd137d05 CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ce1bca-99b0-40b1-9f87-061103826afa CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ef2cbbe-6d05-4d06-949d-0fc1206df4e3 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf09e07d-0fc9-42c6-9545-b33cd32dbb3c CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac20df2c-5f48-47a8-b0ff-bed16e727ac1 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13769831-e4b5-4999-8eb2-5b37cd69b65b CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d36c2b99-8bcd-4908-8e56-01711c48f8da CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d987c2c3-47af-49a8-9001-94e05581adb3 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9fe28b1-4a9a-41a1-95b6-01a31eb8a767 CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741e2b4f-011c-4e5a-86ea-b347cc9ec5b2 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34d96209-f550-4a6c-a313-2a66e8e3b552 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca30074-e90e-4d15-bed7-cf7e444aeef8 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd0cf9a4-2fba-4dfc-b610-c1beade45cbf CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb42cf8e-9ba7-4e30-a9d1-705662002e19 CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f59d8a05-83ee-4a77-91ef-a680a883e98d CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6bed1a-da06-4f55-bcb0-a6f48b023690 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac37e2cf-e4cf-4336-8603-3db3677601df CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76619889-5bc7-4dd0-9540-a4466483055f CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5bb316d-5873-4c9b-85ca-e9ba905b5176 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fa9c3e-4d94-449f-bdbf-86ba9b7a9ace CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d8c2a88-0228-41de-ab8f-e45909055cb1 CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8232f238-f1ad-425d-aa7b-b66139c90d68 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e1f0775-246e-4290-ac9c-320973326d10 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8e5497-1618-4d11-94d1-41fd075bf424 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 609d7a2e-acf2-4569-bd2c-81b0d8a8ac8e CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf20580-ad86-40fc-8c40-cfc4c6cbb62f CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75996ae8-6a64-4720-9648-470b1805c70f CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ee65ac-af0d-4980-95ef-d1effce195fa CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31fb6a3e-8dbb-49ce-bfb8-731aad763a34 CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eeb503b-8a40-414e-82c9-bf22e2bd42dd CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf0536e0-fc01-4f28-88d8-13b65d94900f CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83de08cd-e235-4167-a6fa-486230c6d47c CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c39603e0-1b08-48e6-af24-03561d827140 CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8d9f5c-ee00-473f-a130-c26dc6751292 CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 029f9d19-0697-450e-8296-75675d309b06 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e49176-30f9-4c16-a619-8103a329ae6a CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9cbe3d7-bb9e-481d-96ab-436aeea43ff1 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4871e38-3b87-4121-b1fa-3df5a7ae8935 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6566ecb-eb5e-4423-97ac-c6b7add15c77 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8980aff5-89f6-4f3d-9d6e-41052b740538 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f85db902-55b0-455a-9ee6-5f6878078d26 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2618f864-56a4-4ea4-9812-e3ed7a5e95d8 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4943669-be1c-4ec2-91b8-a07cd55cb21a CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5e222f-c06d-4740-a7d4-3d7627f63589 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 264c720d-ce26-4279-9236-e1ee31788a11 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2dca471-b2db-417f-b2f4-5cefa3285498 CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a248564-cfc9-4d38-a8da-a4f480e9e4eb CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54396b63-ed01-4be2-8ac1-da319b6db95b CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 531fb669-5e0e-4574-a7fe-1db7b9f0b208 CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea62680c-dda5-4682-99eb-e39e0d52452f CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9522f81-4b18-4e28-b2b1-8cc186c30690 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4bf921-bdab-41a4-ac32-7a28dcb438ad CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6264740e-01ae-49dd-8985-8e9fc5978e73 CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d74ab8-b120-4afb-98a9-570f04ec3bf9 CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5458bf2-8fe6-409f-bde1-05327c92914b CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64c6efb-ace1-409b-87d8-8452a5171937 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bdfc78e-2863-42ae-841c-277718f8448c CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0025a3ef-1c3d-443a-a732-78006de633e5 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5043e4ec-01a7-4f2a-9dbc-bde58a56e956 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33b3055-cfa6-4b71-8b38-7213ee51cd89 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5abfbcc-b524-4422-8178-5ac5ba3373ae CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac606272-55f0-43ef-bce7-895973bcfa71 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b635972-291a-4097-b7a2-413ecc4ad0fd CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6b63cb-23c4-48ac-b05d-22583bb31f96 CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 250188cb-7ad6-4c53-b188-ba6028516d03 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b1e064-7dd5-454a-ac8c-aec93e306ee4 CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2d1d4ab-017a-4ca9-b3fb-59865664be15 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca159ba-c998-47e4-8fcc-d3e25e38fdc1 CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 486a4f64-baa2-4d59-83a4-b030bcfbab3a CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbe0b80-bcbf-4c99-ba60-fe57290f91c9 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1424edd1-23d4-4a0b-bb0f-5adf2947ffad CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8cacad2-f052-467b-89da-e4364cb2b006 CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ef7ef2a-b64a-4b6c-9197-6b488566d80c CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a407893-7ae8-4169-817a-f05d22095bd5 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c51314be-a56f-4850-9e9e-936388e4409a CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d36380-ea89-4f2f-b590-02f6440bcf29 CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255cafe7-1838-4f8a-b988-b6f473ed24e2 CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292cab05-0e43-482e-9433-dd46e235cc44 CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b30711db-dff9-4fc5-833d-0744620d95e9 CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9345237f-991e-4a7d-a493-13c791aad493 CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e39e928d-d09f-4e96-8dbc-b19dec96f5ac CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4d3fc9-5531-48c1-803d-bb6874570611 CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf0ce51d-75ed-40f4-89f7-de081d7368f9 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 596f4e9a-5a3e-41b8-b0f4-62ed3d791e2b CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4a8e8f3-905d-4459-8912-77fd586d3293 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f9893e-5658-4937-8e08-1579e98aec12 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03e5c068-69be-42e4-a079-6990890aafa7 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8ead85-1756-4189-9966-2b088987f3fd CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3870b002-d9d2-4af6-bf3b-9eb70e8fc337 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44358263-6112-40c2-aad8-f40da7893797 CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df55e4a7-3641-4947-a9d2-d094e182a88f CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf0f115-f3b5-416c-9d1a-597e443ffc02 CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cc146d0-a598-4d46-b95c-f16a1b395c7e CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b663035-e292-4cdf-93aa-94b5d06219f2 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 134fc6ff-b5cb-4d53-bc0d-05e596376530 CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b87f910-a1a4-468d-81df-ca8a34b67cfd CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 598f83c1-70d6-4deb-a612-5be95a32a06f CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f59f818-2b3d-4f04-a072-4d086b4b466b CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 194b6d7e-2f83-4daa-b082-61f78fd478f5 CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafb283f-8f44-4c13-9055-6fe030dd4b8e CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fe79665-1ce2-419e-ab9a-2ddb5f42b9b9 CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68658451-c52e-4ff7-b8fc-27e582d4b23f CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28eb761d-93c2-4632-b0bf-5f45ed7c71fa CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7465e1-588c-4565-8088-275570e378c4 CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f8a2b51-3c81-4988-ab16-ae45f6f56891 CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2bc20e-d336-4c32-a04d-b5bdc77a06de CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4573ee1a-0189-4b0c-b4cc-10ef2855f15b CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2532a6-c748-40e7-89b8-62429fa8036e CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44ba9051-4e5b-42aa-a25e-df4a213ac2ec CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed77216-57b2-42a8-ad2f-c89a2b062f24 CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a8840ab-ee97-49ce-accd-6b6fa9fb8f36 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e8fadd-19f7-42c6-b145-0280f5162be3 CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91191060-e5bf-433c-b5fe-1cd16995212b CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161be51a-6a0f-4b09-b29c-e31bce1ba9c8 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c21d280-ca6b-4e3c-9c03-0d8bd95e6a1e CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e086b8e-7471-422d-b730-6b9e30b8de31 CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 672accb6-8235-4bdb-8fd3-6b081a8e1a2e CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a354509-38d7-447b-b39b-57e270cb5890 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeeab836-83b8-4a54-8875-02147716d78f CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb6be6f-4ddf-4b45-a843-78e4fe21f305 CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2ed27bf-b579-4576-ad7c-32515213a7ab CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f4de0a-29a3-4253-af04-04840725e5c9 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba56c29d-1a0f-44bd-8f86-b8eeb0edcbd7 CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c5f943-7f57-45d4-acb3-778fd0e68521 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fe944ec-2d61-4a8e-8128-c3ae556ba765 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b5b197-92bf-4e46-bbf4-28828bf72dba CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c05e3e29-6b36-4eed-a795-51454b34abeb CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db325374-d4d5-48e6-b16a-97586eed615e CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad964425-f44e-42eb-91bb-672fff61c4ee CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c1420d5-d2ef-4184-bfea-7ef556359f98 CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 527f32a8-f043-4400-8062-fb1ac5a83e6f CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30c8378-0279-4449-8cec-10c737bc192b CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94107572-17fa-412e-bf62-6a2c9b3aa0cf CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cda3b5-fc06-47e9-8b47-5e4e814b5b9b CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24fa65b6-9533-4936-a638-555fc105093f CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01922db7-111c-4ba3-beb4-894edc2a53c1 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b929e19d-1407-421f-b53e-f4838a939de5 CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85739e3f-5b4c-4149-9245-08c14ebba5f9 CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c10624-9c86-4330-9bf8-07d9103b5258 CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9addd0c4-8745-46b5-9989-6e8083ea1312 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce32bd37-b1d0-452b-9e28-95e8d0f4076d CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09639c78-f5e9-4aa3-8896-b0ab46815be3 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c057018-c75d-4a4f-9723-75bd0fbd2ad5 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7022aba1-a230-4531-9cfe-d1e30361a7a8 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen caaad5d4-5ad3-4541-a2e2-9432ec36a2be CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1dcf68-4bc0-4e74-b930-edcce414ed0e CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66dfe952-d7ae-4b15-bdf1-f254e6f25f6b CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a32818-213e-423b-ae45-5c9e925e6a9e CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77abfc68-5c4e-4d28-b72f-ebe2005458d6 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e434d8-c498-47c1-95e1-882a12d7a733 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8ea91bb-d158-48c8-9f92-1d03ff1b5b67 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23eb348f-bf59-4d3e-9ee8-eeeb505c94f4 CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2f4d02b-ad17-4cdb-bc60-0495cda0ae3c CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b605b94-2ea7-4808-966d-1ceeb4886795 CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f299e737-53c4-4c72-872e-da39f94dd2f0 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49869342-a765-41d3-9287-29b9d0b761d3 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2517a26a-af93-4e74-b96f-9276e1048e54 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ba2487-9036-49f7-9426-c6f2233961a9 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f76c50-c4f4-438f-ad5b-b662ac51d323 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51155037-9006-48f5-868d-b816d209c267 CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e900bcc1-06b1-451c-a53f-7904a6e8b881 CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48092757-6943-47bb-98ff-418079c6652d CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d69d6687-cb5e-4db1-8b95-c360e7f87333 CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099f7d96-2a0b-4cd4-8c68-e8ada51a7e83 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 339604cb-3974-47ee-8b85-bb43c32197fc CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35278232-2501-4759-a0a0-2f7f8fc1130f CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a65896d-13ae-4201-bf49-49ad16efa52b CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a79c3e-1f63-4706-a167-1cd34551c8c1 CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc3023a0-1386-4a66-b738-ba04276348fc CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b517e228-96ac-4b47-bbc3-4c5652fe38f2 CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97856b39-158e-4324-b8e8-7a68c0a8c501 CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa3a89a-3ed4-4719-82b7-87385d02a490 CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e39b129a-fccc-45f3-8d48-5b8ceb4e749c CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417b7f8c-da84-4c86-8740-fbaaf134a9cc CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 630fdcb8-d2da-42d4-ad0c-bf49115f7a7f CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919450b4-12ce-47a8-aabe-95a8ddb8e187 CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 638a5b7d-07e2-4ffd-80e5-387eb572310c CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab273100-b704-45cd-bea0-044ad9bceb75 CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fece71f-4faf-4034-8181-c76a8684d885 CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e11607-59eb-46fd-98c6-da90dab8333a CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cd55efc-c13b-4a04-ba2a-a2208e839809 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7b29fe-a0d3-4743-8d71-7d3d4d44282d CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de970039-6b22-4a85-ab78-a241fc83be75 CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b547e7e5-017a-4470-832b-314926848dc7 CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f49fc80-d1a5-44b0-b0bf-980e38b1be15 CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecd4efb-d252-46fb-bae9-4c2ecebf1570 CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39382953-de31-4a85-86c6-5b0ee4b73702 CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd025ace-08fa-4c34-8833-3c3f9c42e021 CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de8f423c-b4cc-4d2e-ae25-25af00599add CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00541680-494d-49e9-a5ef-c13818b64123 CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1adf847-3153-4595-93db-8e017c73f19d CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2dcda2-93ff-4e01-a9b6-f7193fd12f53 CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23d73cb5-5fc4-4e9d-adbe-8dbf21f60f24 CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965255e8-e329-4c34-a62a-3c1b3d4f0719 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cc27415-7d80-4e74-a7d8-fd27a2835727 CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a30d47a-6a9e-409a-bd62-320e860b7a2d CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09300c79-1ed1-4eea-97b8-5763afe57376 CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a4c650-2988-4c4a-afb8-57c24695c472 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce372034-5322-4b61-a397-c617b4806b2d CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06097414-19cf-42d9-9269-d15573321194 CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c5aa490-4883-4a8c-bfef-15b13f479418 CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c0e4cc-83dd-45c6-a8a8-593fc2d6d90f CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14305482-a852-4844-8a50-2df7d79fd2ae CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9dccbd-45d2-4dde-af2b-645b93de9fb1 CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86fdf9e2-7a21-4795-a35a-b451c1595afe CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c0496f-79d0-409b-a999-7fbf343abde7 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35098577-3011-4289-b2cb-f8aaf1652437 CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd80fb2a-a109-4ff4-98f8-574cc5466961 CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25c634c0-7717-419c-8533-f17ce363863e CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb40a88-bd50-42a0-81ef-bd03bcd8b3ec CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb572860-1fb4-43d0-b776-6e5fc088ef17 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4abbdc-dfbd-468d-a6d9-f107e57fb122 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c62fadfc-fd8d-4b93-ad48-c2515dc4d424 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a7e157-be5b-4090-b4c7-57df2cd48488 CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a1baf3a-e9ba-498f-9a2a-7f57346cd5ba CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bcbd74-a475-4ab8-97a7-6dc7bb296528 CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22ef1e1a-31e1-496a-9785-a6145285d5cd CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52dd18ea-025a-4ac5-bb16-9cb3a9ba7bdf CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98fb110b-5a3b-4192-ae76-236ce2f39cb0 CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795cea1d-2569-44b0-a21e-6862269291ba CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99e73f5a-8951-4771-b70b-4179e3e4c4c8 CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0339588-a4fa-4626-afc5-ee78adc1c18b CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1ea5db3-af83-494e-aff3-fa2e4cb1c8d5 CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039d74f4-cea0-4a94-9a92-1778ae261752 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae143a04-d1d8-487a-aae6-03943e641a62 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e90d870-05d1-4801-bc93-d5656f5d8a02 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b671394-072a-4bf8-b476-50adf7af91d9 CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6703bd8f-b7d7-47c8-88e0-cf7f6407f68f CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e576adc3-c659-4622-88d5-55378f12dcf9 CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69bdfd6-e169-4337-a0da-811abcadba80 CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69c93baa-6e90-4ad5-a33c-829cd68f9338 CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7891353a-e24d-411e-810b-8c284a124204 CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e4f609e-6f68-44f0-846e-00c0e0990f49 CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7632b2-2f73-4ca6-b51e-f141db9af6f2 CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb3f73c5-ea15-4b5f-8280-1c8381320b4e CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5299348d-e3fa-4da5-9029-8d8261c0b4ac CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60b9481a-b6fd-441a-9643-31cc312a3dca CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d022b2d0-2399-4eae-8361-9c6fcd3e6bdd CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c014c37-56d4-4688-b1ec-03d9b3dc223b CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca5a48d-d372-42cf-87a8-bed4ef759f91 CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffaf8bc4-8ab0-4fd2-97aa-c1ed344df239 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4cd8b1d-41c3-4d94-bd83-a969f7ba83ee CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c320e4b5-510d-42ed-8780-69e6ed96e21b CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b775da-fe0c-4743-8586-eb211cad8bdb CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8d7ccdb-baa4-4ee1-8de2-6dd2aae7a6ca CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a09ede-4353-4a32-b386-c8b4120f997a CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa99403e-2ad0-44bc-a132-2398c7e1a626 CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ed1fbd-adb9-4162-b9d0-6a574ba9787e CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad5fe9f7-eff1-4730-9bd6-665497626a79 CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a286e4-3b24-47b9-b448-e0c363513c8c CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2d6eae5-e95f-45c1-8894-ffd1a22024ad CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18dacc6a-fb29-42e0-bb64-b1a1ba530cf8 CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a30675d-f40d-4119-8bc7-72ec2b196770 CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19d66aa-5d7c-4c59-8aca-ec9cb2134b67 CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e1d87da-7aa4-429b-8bdb-b7d4fd054b65 CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140e4d5d-2d7f-4b43-916d-95e4600677b1 CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb53c6e-b981-484d-97e3-c7497f9b353b CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fd945b-c77d-40c6-ad23-c2e1c0c336de CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a38f5d65-21fa-4a0d-acb3-924da472a21b CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d05fda95-802d-41e4-9c9b-3aaac20b99b2 CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82941878-9701-48db-8301-7c6fa10fe885 CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593f62e4-2e1e-4656-85bd-38b6a6fff45d CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70035743-87f0-4a2b-96d3-1d00dca702c2 CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7586cb-0d81-4e0f-8394-16acd141a58c CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d893a1c-d383-4c20-880f-bf1b5994f20e CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033e0151-8d0b-45b5-bace-2c0d4a60d447 CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8226775-b250-4b62-a260-e3eceec11312 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122dcf8e-4de9-4bbf-95bc-2192b5f14207 CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41cba87d-1d76-4604-a078-a4be45925954 CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ceca2b-4648-4f7b-9251-f02d269b9328 CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39234c09-3986-49cf-abe2-99a8aa99eee3 CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4449055f-04ae-455f-ba24-002476aa036f CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab1b0b9d-c63e-46d4-8cc7-b378aaf27f44 CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67aca5c3-89e6-4337-9097-bf89f8a87e59 CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f35d0d18-dbd1-474a-92bd-ead52b089981 CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b8ba56-2344-46b8-b1d4-fef2e65da32c CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51eeec0e-b823-4cf5-9fef-ceb50c6be425 CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641f7bad-c8c0-4c6a-a199-d78639a5f07c CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a441eb-2f3d-4ea0-b234-778c1222e688 CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121f22fa-8bca-46ca-ac8c-652b23ad37eb CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5ca8c3f-2c9c-4bc0-aa0f-b5afbfcc58a8 CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb22b84-1fc3-4032-b5b7-479ad36cfadc CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e93aaa4e-b5cb-49d7-9070-9b25bc2366d0 CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8884c09-89b0-4a9c-9295-11744b45fee0 CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82750dc2-f520-4e3c-8a43-b484df136741 CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15a6f97-63a2-4051-856f-c68250d53550 CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b1e794c-9c33-4f67-afcd-0bc70c62a14b CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d8fdbe-4086-4e66-b6a1-29e081fd3f0e CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a7d9f46-a443-4b87-920d-2362dad5c26d CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cacce268-10cc-4328-b834-3c37f5abd146 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fba36bfa-f997-4fd4-9284-f5c18a5d567c CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff86eeb9-6898-4560-82d2-88925627010d CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ba8af4e-67b4-4fc7-a013-4af91ea8dc07 CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf8733a-375e-4918-9cce-a963da2da9f7 CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1078915d-8889-428f-a516-9be778fa0c2f CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9163c7-600e-4888-838d-759ff44d3ef2 CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03056424-4e38-4675-8c78-ec34ee5f5e52 CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440815ea-ebfe-446c-9f1a-c0f0d380a56e CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99f4d468-aca8-47d7-8098-49c018f6662a CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa06093f-c4ff-4763-a222-295081e73fce CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94343d02-5968-4299-bac8-bd8804e03a21 CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384ff25c-00b7-4f9b-8302-fbc41b2f4caa CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29d313bf-b639-440b-9b00-ced9d7a87284 CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f98362-f23e-44db-87c5-55f66c8f6b29 CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca1c1e0c-c7d3-4e8b-9b92-fe84b0a4445a CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe6732b-bb0d-4110-8a5f-ae1f43ed411e CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35dcfaf1-d9d4-4113-b7b1-74c79aa15a7f CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33523a9-5f25-4b11-a5b3-17544ccb22cf CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 965131ac-cea1-4503-b1a1-522350968cd9 CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d60b90-7d4a-4304-8c5e-2fdf41bb38ca CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11a1b8c2-7404-4017-878f-262f5248151f CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ca0277-a1c6-4f97-8373-5babe7984b5d CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef5dc4bf-aa3e-4ab6-9dc7-abedfa3dad93 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d98a48e-5837-4f05-9c62-497c96c8b748 CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6beffd48-d256-49bf-9909-7579b0dfe10a CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f160b9f9-2003-43c7-92fb-25c65f243725 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c3ff7c7-9114-4f0f-b908-4e1e10467845 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302703db-c7d1-4006-b226-644c0ad0401a CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8570f348-b776-409f-8e06-1560b7d1fb02 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902103bb-efe2-4f80-ac15-63906e911afa CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17e46333-0a52-4606-93cd-fdf110c9178b CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afae3abd-1c3d-46c0-859f-62ba25c2f28b CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0ec543e-7856-40bc-a440-99ce672a0134 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021f4357-db23-40d0-9356-45fd97b5374f CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d7b9a2f-6635-4b76-acc9-652c63c0a460 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede2aca1-6208-416e-883a-2d19233e0234 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91f39510-9b34-4751-9937-6a95dcb1e277 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109d68d5-e9b9-4bb1-8ede-c7e9e9e393d7 CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42fc2307-ec8e-453c-a248-cdbcaae84a8d CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce8c00d-832f-4dc6-b862-cf223e7d08c9 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56d94e2d-40f4-424b-a755-f8faa585e5d9 CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c88a28-562f-40ce-a80f-78ee4377443e CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1566a81-fdc0-401e-b76f-3f2ae4d5ddc9 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b017ceea-71db-4434-a2bf-154295065eb0 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d68c320c-5388-4773-8ff3-5a77692f6883 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685b8389-ac25-4d06-b1ba-1b68920102cb CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3599a3d-ee42-424f-a3ff-5532c2f66108 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d522607b-51ed-4c8e-bca3-6715c6d2267b CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75b40ca7-7237-4b2a-ba86-e4887c6f5d39 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a2e3a6-19bc-4f27-9daa-a55f11bdb38b CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d71bc58d-7c74-4e87-a4db-a1ee923f33dc CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce3a49d-b622-4bd8-9aa9-d1164381a84c CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3af4b23d-3940-41ca-88db-54505fa6da76 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73adad4c-c306-43ac-8773-db4ffd6798bb CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9f2793a-6009-4e31-b2c1-48943750d04f CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5433431-4050-40aa-b29e-2058eabbe90c CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 856f8db0-34de-40d0-8cea-8bb6882ccfa8 CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c931751-0774-4a03-b431-3f956eb0f1e9 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd3d67d-023a-4601-85d6-39d2e63dbad8 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2b8011-8765-42b7-bce7-3f8d969b9f0a CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b948145b-aa9f-41f5-868f-ca1936578527 CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4f76cb-2f66-4359-8808-2628644b3535 CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d297ed68-98a1-407f-a65c-d65669b42245 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db54daf-c038-4e79-9a4d-72523a775842 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbe914cd-879f-4708-8813-bd43197b3b96 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9596fa9-94ef-4938-be66-4d850987c8a2 CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 958bf584-d7ca-464c-802f-4347d2ec1fec CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695f591e-c375-4e9d-9f0b-fa1b5b1a7b51 CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 054c0280-a477-44be-892c-73540a64d9bd CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3392a960-1726-4e32-9a13-21b0e8fcd33f CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9801f432-3a65-458c-a731-91479c72b38c CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc941705-17c0-4574-9e44-774aab93b1c4 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 070508d6-a208-43a6-aa3b-7f0f0619b4bf CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0703195-162d-49cc-a982-ae4430c2217f CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 787fee8f-8e1f-4a1c-a1c6-0ad7c1cc365a CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ccaa48-bb2a-4b26-bea2-7003f71484ab CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c5dbef5-622b-446f-8c4b-c1f753006145 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cca97df5-6876-4787-a8df-5c68fc1dddb1 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ce0225-7d31-46b2-b956-9d047b5f747a CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3f6ffc-e09f-4bc7-8ba4-aaaf9a61383f CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85a47a4c-a0bd-45b5-b710-8b6efc2269d0 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0812b21-1929-4802-9560-523532c8064b CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac4ccde4-1c07-465f-9e32-8be4501e015d CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2ddda3-2a49-4629-9988-8a80f5be8a76 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ec37a4b-d5a4-49d8-aa3e-3e92833b4afb CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f369e05-b5fb-4280-8600-fcf6491334df CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8b35086-4aee-44c8-a362-7de212e1e380 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ea5f85-17e0-4794-9a5f-1ec486f5accc CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f4b7f90-2a4c-494d-b46f-e9cd634175e0 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b5cb94-9329-4aad-8363-224beb252108 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 256d641b-e79d-4090-8939-280ff115106e CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68208e2b-6467-498a-9390-887663e91167 CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8e8ad52-7fb9-4a1b-9ba0-702b6d4886bd CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c39e4d-a9b5-401c-a2e9-129fb2c8a92b CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 829c77dd-eee9-491f-be93-3b975cffa55b CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0645c25-24e2-4e59-b130-3e5536a083f8 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85397d0d-8db8-4be3-9cb9-6755053115b0 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f617a3a6-2f12-4f3b-9968-47a4c178c812 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a516e6dd-2558-4186-ad5e-73e3520111ce CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c4e55a-1e1f-4251-8e27-9b8a03d0d0f2 CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 315f4b19-3957-4196-a7be-e4d9f8b6a7ae CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67f054f-1bb5-404f-831e-604c641aec7c CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da5b8a7e-3622-462d-9e74-4ca6d737c8a3 CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca296e45-d9a7-4222-95e4-da783e38fc45 CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5605d0a4-1214-4fc1-a14a-c23489062931 CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8193dfab-a285-4523-a9d7-9307457bcfd9 CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65899547-1435-440f-a760-a10dbb5dc957 CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8d5dc6-08b8-4da2-a830-b872ddda2180 CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11f9d1ef-d61e-44ba-ae0c-b45ab88cb68e CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04871468-7cb0-47f1-9dcf-9ffe0ec5a1c2 CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a264a390-1d0a-4ea9-9694-4b22e59e43e2 CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c292f2b-7046-485f-bb66-175529ff56bf CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e0bbf12-05df-4c3e-8bb0-9fe7ec90bb98 CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb18e3f8-1275-4dca-9f9b-374261bc2460 CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60d3e59d-1c32-4d3e-9b85-71a2c03c1c59 CLINVAR:1810378 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 412ca8b9-8b20-4820-bc07-98126f5e0bee CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27d0de89-d4ee-4997-afe3-5bc140dbb3fc CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0700ffa1-1fbe-46c1-a227-247ee29c1b24 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24e08d08-8aad-4535-8ae0-7e918c0ff2d0 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a30f2fd-8d83-475c-98e8-8d82761758ab CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e90fa83-11aa-47e9-a915-59c659ed5807 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9648c3e-359c-4cda-a5a5-9c0e1cbcf5a4 CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 134cf9c8-da0f-4e2c-9686-143e1ec975f9 CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccce59c5-b4d9-43cd-b27e-19e49cc74046 CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3eef2eb-9271-4c40-b137-d609e190a0e6 CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c28bb47-7846-4668-bfbe-fb45df9ed15b CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c01d63-c991-4c14-be78-19bb3450a0c9 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f530bb-f5ea-45d3-b103-ad25233dd728 CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4faad884-c6d4-4dbf-8326-42e6e86d756a CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 676ac5a7-0732-46a7-a9bb-66842b45d2da CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4a7414f-a9fe-4028-8cce-420d886d1825 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a52405-9e38-480b-810d-5a29c6954128 CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ebe90bb-2d5c-4b8d-8858-ac2e9c8716b4 CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5935668-6fa3-4bb8-b846-8b5c202d412b CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f208c2e0-aaf0-4028-9186-e64ad3a3d16e CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43bdcdd-34f5-4065-959c-cb5972dd9985 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2396178c-997f-4a4c-ad48-eb94f7e0f908 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c617ec-4799-46f1-a0b4-0388cd9f42fc CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81a55e50-0292-49a7-96f9-fab0fc5ea3d2 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f2690e-3848-445f-98b6-e9a60ec6433b CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed9284cb-05eb-48ba-b8d6-c3cbba46b4e2 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b457a061-e65c-490d-8312-d53c5495d5bf CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e9be7de-46a8-4147-95f6-80878eeadbff CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6301c95-6724-402a-90e9-6e495fa288cb CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7516012b-2b0b-425b-abdc-0d0d78ffaabb CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faaf2483-7884-4cfd-8d2c-b12f547d6fa1 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 677536ff-59c9-4f11-add2-424396cad922 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 523e155b-f9ed-425b-850c-4eb98a5ea80b CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d994bc-768e-4146-8939-ad83b1f4d41f CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf345369-9f2f-4062-aa47-89a9e85bb733 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2b6d18e-7108-4aa6-b453-c87db9588d01 CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03317eb-17fa-409e-8b47-691843997673 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac47c45f-e16c-4096-8d76-8c087b7e2c9b CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b605a923-657f-406e-a93b-993b70081127 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0ba4eec-4520-4774-8e63-aae31bbea091 CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 532f5948-ae17-4c1a-86be-a6a033dcff81 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b4022a5-55db-42c5-92c8-828e781c7082 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b644cce-ca86-4191-9c99-9c76734e6c2d CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 403fbcc0-7062-49f7-857c-222c6a0395ab CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96766d0f-064d-4f6d-97cf-056ba74363ee CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b76333be-0bc4-4988-8740-6136b57fe698 CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80367cc-345b-46b6-b510-cf31823b768c CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72638256-6660-4f57-8c04-20b7a1219770 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2114ac22-536b-415a-8030-b12b10904971 CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49a8ff43-514c-44cb-88a8-8d0cc6a72e7f CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929de960-1be8-4c3b-bdbb-165a4b23f563 CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91d2d42b-b772-4c68-885f-c5c87df959ad CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3788a402-da9d-4630-830c-65a0586424a3 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0d8a5d7-7159-40fd-afb2-7556726b5e3d CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a730087-847c-44db-92de-e9b0e9b8759f CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51ab5a69-c294-431b-8f55-26c918fc28f4 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3452b58f-edc4-49f2-9580-fa0ec998bff1 CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01c4e5f4-7a9f-416f-a096-21856e32054b CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad1f443-340f-49f1-a291-53d8aef936fc CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a365542b-0051-4d0e-9069-4835b90a66e9 CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9286e29-2a1c-4f79-9110-6bdee8ddb8a1 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2255f50-d5af-4bfb-ac0e-cc97ad1258a3 CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f611058-3554-44af-be79-00135fba86c5 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39fa3d1f-5944-4ae3-acc0-59df6afcec24 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d702ff72-90fe-40f2-9173-2400888ff00a CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db310400-1c68-4ee1-b8e7-f821e4974438 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e485fd30-95d5-40bc-8896-c512358557f4 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c4b789-b8c0-42e9-9c4a-0ed7f6313aeb CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27555935-a0c3-456f-be00-65df5f66fb83 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d78edc7e-f960-457c-8d53-99c0c47168fc CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c470732c-3df8-4bfe-9fe8-e5d12b120923 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95f75833-a028-4d1b-9e71-096d7616ac5a CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca473531-d36f-4d96-81f5-9f278bcff9e6 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45423fc7-4801-42c8-8c60-8aadaf2d86f6 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac0e008-88e8-40b5-846b-c12e610f4ff3 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58182d7e-8766-4377-8e2d-18de5e8ecefd CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150f1c82-0edf-413b-9504-33b764bf89d4 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25c44301-ab11-4f93-bcdc-326891e27f77 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc5129e-16ed-45a4-91e6-df1a5e55ad1c CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbc8e081-256e-4d00-9a2b-a31ede71278f CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92eb906-b0ac-45a9-a62a-9230b6eb9981 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e87ea29-9465-49c9-a87f-7b636ae28d09 CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9f21dd-79f9-4dac-838d-177f24c9fc40 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2072d165-2f26-4c0d-985f-e1afd03957e3 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7f46ddf-f4e3-4500-9cfd-0f1cf9d430fd CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4d20a0a-0992-455c-bdad-8a5a7c80f626 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99c05e3-0ef2-473c-a13a-baa676ae3123 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 775280c1-bbc0-49ec-8214-68309f8d9105 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55dce51-78d2-46bf-b29e-e00883e47767 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e0a0df5-363a-49c6-9c04-44e6bced92e7 CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311f0fbd-dfda-48d6-8832-6706e65ffe1e CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a95f0f5a-b88b-4a33-9dc4-ea9f87233e2f CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05d2cdf-8b71-4a2b-90a7-f8ab72eaaa02 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6207e232-9d8a-4d95-88fb-253713199bf3 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6147d59-1028-4ab7-a2ee-ce87d2f1cf67 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6db079f-cfb9-4393-b94d-c083b87ab40b CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6da4019-57b7-4ee5-bd83-472f8d519e9c CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a69bd557-7982-477b-82ed-463fd2ccfb78 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892b84b9-ef3b-4274-ad01-3680b728b255 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f25b3da3-5a1b-468d-951a-96ad8aee7b8c CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885376b9-edf8-4c3a-80a1-36ecf4a3f989 CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf4848e3-e68a-4787-bcd4-c0f56e4c53c7 CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2e891d-b429-441f-8c55-56ad7c1ebb26 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8fe0b3b-784f-4ee9-a56d-bf2b8b4fa41c CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcd1816-f27c-4884-9ff2-cc43a84f6e9d CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0a0b41b-91ae-42a1-8509-348a00588b60 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbe5009-bec9-49a7-8274-d55be71cdb6e CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0bd0518-c6b2-45fb-955d-fa8eb2875e55 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b63efa-fe8f-43bd-8816-f5aba93dbd65 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21350ba2-11f2-4f2a-9331-01c8377cb08a CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e8e90a-3ada-47f8-b45c-0fd8f3c099a2 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7864cf51-5a72-4019-b0af-c6875544574e CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668cea39-83fe-4672-ac6c-a2802d3492a6 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5ecc32c-ad3b-4510-9aa2-55918fb16546 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9118e80b-50e9-4432-93ea-c06c5d3ce92e CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301f0b2c-84e0-429e-bdab-7e47a668da88 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa49f00c-6dbe-4f08-b362-22edf776c169 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40177edd-cca4-43a6-ae59-7164015fa98b CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b0b5f8-9f96-4326-8c83-511e0fdf7498 CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bd69aef-405c-4605-b7b5-02b7dd721c84 CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de33da4-f64b-4e7d-a9a3-544ac5bf7313 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71cf0c71-fa99-4321-ba6a-96a518006be8 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2de925-6d61-4d8a-a929-2bea348122c4 CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b60af6b9-7cc3-4403-8e8c-32b5c0c906f6 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ecf05a-1491-48bb-b809-ba00e6facb5c CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4567bdb-06e1-4d13-9497-87cfa1e3d668 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c5de6b-f23d-4458-9965-d361240facbb CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c938eb8-1ff5-45f9-94bc-e24ac895cb48 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466cec52-a97f-42e2-afe1-2440c739b440 CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f05fae1a-9d91-4aba-9a41-4e3084360b93 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23413771-ff59-49b2-b1e4-ba7f6c79f8f1 CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3275a411-07a1-4c73-ac09-e60234e540c3 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a99222-d27d-4dac-8cb0-e92f691b050c CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9640319-78ed-4d5d-a130-a477a07e96d9 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7520ddee-3783-4883-8e99-59a933c8bd76 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40ba878d-1118-41b6-81dd-e589132d2eb9 CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3582cc-90e7-4ad1-ad3f-056a5bce9ff5 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 536c7251-1353-433c-9a48-a094ccc8be7e CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d96fee-b434-447b-81bf-f0cfb9a6a5c9 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7c3df77-b33e-4177-8ea7-dd93ff72ffcc CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f5688b-00f9-4ef0-b932-4366a43413c9 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e1134b8-ddd9-4222-8142-18deb1839cbe CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a99fe75-e42b-4151-a225-b3f6faf74d92 CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6125a57a-bfbf-4082-842e-a5a8839841e6 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f67d326-8318-4428-b462-558eb359f05b CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b47b6ef-db1e-4e5a-a2c8-515134272630 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b554371-41fe-404b-a3d7-72d03f0060d2 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd28ae42-bbf6-4ab9-861b-9bf450804261 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4e4a9e-8e9f-4fcf-948d-f5f594e2a7c4 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abac1baf-8384-4b9d-86c0-07ff8f851f27 CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59751c3a-0a64-4907-849f-99e430d29402 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c10e899-5cc3-4db1-b24d-519c137ace95 CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e0dbb2-5d1a-4895-9464-89d19a61d643 CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07414f10-243f-4045-9d0f-fd80713c80be CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab2163a-af3e-463c-bbff-f2dea8b92103 CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f3b2b3e-e3a2-48e0-8efa-e646ced941c4 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f5ae9b-83b2-48e5-bf08-4d732f5653fe CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eb187c8-676d-4c1d-b16e-28f784199945 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fbd4a3-43d9-4823-858e-b6d01dcac577 CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e76add2-0b74-4b4c-8787-af896f5d2400 CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499d5d1f-6b25-44d5-8924-349e6c1beff3 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccce342d-58aa-4b1c-8c4d-901aa80a7af4 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9558825b-8df8-4363-b860-4f83b9672c26 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a24fa232-0196-43ad-890a-12831ed7ef7d CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0d8bba-77a3-4c46-8293-57b01d314571 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84fa5afb-c5e0-4537-85f3-b8e4588a0ddb CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e4b52f-fcca-451d-a305-f6bb764c9d0e CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27d8714c-8cc6-4bcd-a972-c6132d1fd3d5 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e664659-7b71-4af7-93ee-e0800d5c5548 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e7c0f36-2025-4542-a19d-181662b01337 CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30745a71-d12e-4a65-8e82-6f630c1c1093 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d791d8c-113c-496f-b524-d6783ee1a527 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bf4b05-9724-4621-9669-0a5072b92d69 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be114698-9a41-492e-acf9-ee94289f59ef CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b713fa5c-8ecd-412c-b166-ce4ad447b580 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5befacc-7fa7-4610-96f0-09b8a73ee8ea CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1211acf7-d6d0-4964-8c8e-c7ee0bb88bfb CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 429ce592-91b3-4ea8-8c4a-ba8147ed2dc0 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b99c82-dfce-419f-a39f-5056d73dbd2a CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d48ac5a-564d-41e2-afc6-74503fc52559 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fde949-ebce-4ccf-ba01-1d46499f94fb CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 030db38d-e6d2-4840-b9ac-c040013a86ad CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ead203d-c04f-4c52-93e3-5738cc2e254e CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 879cc49e-b084-456c-b001-36a9018ac000 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a25700-5e1e-4f30-9217-42e224764f98 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d9a8ff7-bce9-4558-94c6-2d049a6722f4 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051bf78f-7113-4d5f-b2a2-8d4733860ae2 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7095dcaf-b922-4e7b-8ea3-2a696167e598 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c932caa1-88fc-42f0-b15a-010b0ed6fcea CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9076d884-bfd3-4d65-b92c-51bc47df4d91 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f21a08-0bdc-4a96-9e86-af4fcaf0e6ee CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe1af4c0-0e9a-4871-8fb2-3f42c43301aa CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a858fd-70c1-429d-8e32-94b5d562eecc CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32bc38f2-fd48-4a6e-9ce5-b5a612f0cde1 CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7462575c-1023-47e5-9446-fbb56f88108d CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3d65688-bd75-4f11-a2b3-4a99e1d453cd CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef30114-7097-44f6-a172-ed86020fe00e CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6380f653-e48e-4a3e-b49e-a54c6188f759 CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba3bbfc-0cdf-4e5b-9c40-4e33b29515e2 CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e47cbf64-23b9-443a-a87b-2e2e324eb26e CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0522ef6a-51f2-4970-941b-e4bc16c4aa95 CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaeabf71-8a08-4776-94ee-5ae9644a02b2 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f41a3bc-4fa7-4459-ba64-cc2e2b21ef2f CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5190d245-de48-4123-b642-54f67e7b6fa1 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6705e1-da2a-4a3c-9926-86552a835fe9 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56b508d5-57f4-4080-9eed-d8b3d04c117d CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21dbe457-ed08-45f0-aba6-e6ea20b2ba9d CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09ae64f4-5276-4406-b1bc-5dc6575a02f4 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d13558b-080b-4d0d-b000-330a6d43fd5a CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0112fe31-4e11-46ac-b51f-25dd726608ba CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d8f749-9a50-4581-839a-3a253415992c CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aa5de9c-e8cb-4ce9-90ec-9c16d28c8cf9 CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0493ae1a-7710-42ff-9a22-c54a69564ba7 CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54971dc5-5889-4896-b74e-7f9aa4c41bf0 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e7599a-841c-4c71-9b23-17db65d30fb5 CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 002929bd-c838-499e-a1b1-902420e3ce57 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87314405-9fb7-4cf8-b4ea-5a029efcc728 CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d45f7fc5-d0f4-40ec-bed3-b83e2479eb94 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d8e71a-3d24-4ad2-aa68-c46b2ddd9698 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a270bb6-8c74-4f61-a33a-ae7fe356fd19 CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6ff67b-ac5d-4d11-9326-b8a282a33061 CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f1ee4a9-ba21-4d0f-b276-fd30d01a6573 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2511310-f090-445a-b994-e6f807fa1feb CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d49b5149-1252-4a6a-be30-392f23fba3db CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b77ad9b-ee13-4320-83d3-2829c4180b24 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d3f8b80-1df9-4f86-b4d3-907cfaf908f4 CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4f4863-e685-4d9d-afac-5e07e0f0a36a CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe63f3bf-acef-4899-8754-e22d4f9e5a72 CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d74ff3-3155-4560-927e-30dfe81a783f CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbe99322-b4f2-42c8-92ea-1b6010373323 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2231e8d1-564c-4c53-816c-391162060d27 CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f0c724-c450-4c9c-9c62-f962b673ba7a CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571b2ac2-57b1-41fa-99cc-2151079bc759 CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4453ee2-cae2-4388-8239-251a14aa5c51 CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54a5d62-f8b3-4c7a-bef1-783a99baa95e CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 500ad3eb-4895-409a-b99f-1beb8c86a5d2 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b27ff06-947f-47c7-adc4-89eb4ba38d26 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5b3edf7-d9c7-4491-98f4-7461a326ebd4 CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f75477-68a4-4e49-a369-c87097a884a3 CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2317287-3028-4fd3-8cbf-921dc15d1aeb CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c4c513-7e0c-4339-ba84-528ba1ae507d CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8efef507-2f1d-4a72-8384-59666b79898c CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c4c3ef-31f7-4036-a4f4-c4f510da75b4 CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a145a4f-7e79-4364-b32d-96593786886f CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f61a3a5-8849-41bf-8c14-0a58ded36a9e CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22dce1bf-7e0b-435d-98b5-8f97a969f497 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba50e8c0-8e98-4b82-9aef-29a05483c81e CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5e9a9e9-b312-49cd-b1ae-08d0e23abe38 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba4fbd2-53ca-418a-be9e-34a6d6f10361 CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6264bcb-bf87-4986-80eb-ffa7d5dd6f06 CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be4f4ed-9a2a-47a2-8cc8-96ced2e47ad1 CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0139d629-463d-4ae7-bd01-51fc3862d0e2 CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6efa5cd-beb0-489a-9a35-a1003e0aa741 CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 536fcc65-ad6e-451f-b06e-c37c24e079ea CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8136d922-b586-4799-b613-8157eb3a5f71 CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cec9173c-b933-41d4-ad59-de46d582f33b CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe861f1f-f9c7-4c3a-9e8b-13dd2e6f0c92 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd8a9a44-8ab5-488c-8df3-2843fd8debaf CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71a9428-01ff-4575-a7cd-0a0cdbf0600f CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6e7d9df-2f3c-4d0a-82a5-0b80cad34b24 CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ad911c-fbee-45e3-ad3b-238b2398c116 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 439160c9-8588-4a81-b206-59107da8a831 CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5f1717-117c-4d0d-a336-21d55537600b CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a256323-f998-427b-aa85-9eee611caf92 CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b495dc6-4079-475f-82ee-5f57a1e44f6c CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2f9218f-7230-4546-9422-b75b6e04323c CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac2e80a-80c5-47bd-bcc9-abef6b906180 CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7d896f3-34c4-431b-ac10-58d0639e3ed6 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d003ff-ecab-4a9b-bcf1-bf8776154bbf CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb20125b-6893-49d5-aea3-998cdd22b454 CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebde16a7-54cb-4c1d-b57a-8c119d167953 CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a3adefc-3123-499f-83b8-38e39872b33b CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a81d22-7a1d-4651-920e-556d45a4743c CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12cdb2e6-d555-4ee0-9134-9baf83e943a3 CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3c1c16-5d96-4281-a4b9-370e4ae88600 CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8661b869-065a-4c6b-8f57-ac349407d3fd CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f04d36-3e3a-46d4-ae3e-750787b15fb3 CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b33b838-5dba-400a-bc2a-72b02af890df CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6aca5b4-5d14-48c7-a4b2-cfcb2b411037 CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52eb4142-0bf8-4b5d-9f64-e0115155cda4 CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ff5fcf-08e9-4a38-9494-91eab62f14d1 CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdb12ad3-9eff-46d0-bd94-d5987677a594 CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505b1d86-e884-451e-9101-de998a9e3b98 CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206ebb9a-fdfe-473f-ba77-3e0fe793ed16 CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6419493b-d2bc-452a-af0e-be71b6cb415c CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e9cbad2-0dad-4341-a04b-34c08107a50b CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3365c5d2-01d2-45b7-abb4-9814a7420a6d CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d1ba615-1f02-4572-baea-4add69f6f258 CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce18f1f-6ba0-44be-9846-bdb2264b1b11 CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6563be43-a800-48e7-b291-1608052d3e1f CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa341f9b-4dfc-42ff-add9-9a2bbbc40af5 CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78c510f6-3537-490f-ac15-ff20a3603245 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbb97b0-2ab6-4efe-8bd9-79a111fd6e7e CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cc850a8-f29b-4df2-a556-4d1e2e061d56 CLINVAR:2429760 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d82c54f-56be-4ff3-955d-821574c83a66 CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 512c7080-c19e-41f2-aa88-3b1a362a6526 CLINVAR:2442266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bce6cca-c7dc-4f62-8fb8-d6d5e1bebfb2 CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0a83dc0-2c8c-40ca-8f4b-6cffac2f0e22 CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1296df-938f-4d25-b80b-d965106eba1c CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4fa7579-f68b-4c0d-b548-69e9083b6d65 CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03184304-702c-4774-8a7f-866ed05ff737 CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c95026ec-4aa2-49d3-9c6c-6a7f0e0c3cd4 CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f516b943-036e-452d-89be-203559f5a873 CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1bd24d5-4237-4c31-81dc-dc45c5a922ea CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df683b5a-b032-4855-8ef0-d4e94e654d33 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 936648e1-bc1b-462c-a718-92b96905cc77 CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c37b13-ad84-46cf-bea3-68f2497af956 CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 030c5a3f-8df7-403b-bd61-f7b55bad36e2 CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8aeeacd-55db-4cb4-b5fd-57a27d27aa90 CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 881ba3e2-7d65-4c7b-a185-11ece12d9014 CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4a5bdc-f9bb-4c7d-ae10-f73ae8e401e4 CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 083536be-e99b-470d-911f-7d2958667597 CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0dba9e3-5661-49d1-9dea-abdf226d527e CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d17650c5-ef08-4fbc-862f-29fc46603d57 CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14feb356-f5e2-4379-87f5-75bc6378df07 CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74d87d31-22f8-4cf4-b367-d0b30317b605 CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e51f9a-d043-4413-8f69-0fa7d21a05e0 CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ebf2560-eb65-43c4-a4ca-d6b31544cfcf CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d4e27d-ad68-4e27-a35b-2fa75daca8eb CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e60e8a38-7361-41da-9132-2184a18dc4da CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ae9a45-bd4e-44a1-95d5-6d5a79448154 CLINVAR:2442278 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3362a7d7-68d1-4908-8b1b-f7de59245594 CLINVAR:2442278 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bfc0d2-dcae-44ad-b2bf-6e5d297fb846 CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe864e5e-a8a0-4f99-ab6b-73cc2817666e CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60907592-a236-49c4-bec1-e13a015cb05a CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81a8a871-e6a6-41eb-bff6-64bda75c694f CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b8d8ac-c54b-42e4-8944-702f326f2fb7 CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 073ecbb3-806b-45a1-9799-864c4fed9ab0 CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b44f073-c3c6-4adc-8054-f0af3aafda9f CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 546d8044-1de7-409a-8a40-7b9b0f926006 CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7626916f-a2f5-4b62-ad8a-088df1a1f00e CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb26e842-90a4-4b74-bd80-125667f21842 CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c124d2-a184-4418-9f67-e323ba2d49a4 CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a230ddf-6c6d-48f9-b3d8-a7d0058b6b36 CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159d7a3f-98df-4165-b6bd-5e5378eb3f50 CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20d3b7f4-9fe0-4a2f-98c4-18f9543de32a CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72122d1-4821-498a-8217-66622eb49dd3 CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be91bce4-a997-4f67-b938-39d15551aa10 CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a913c3e-6a97-4e0e-8c84-48cb5e138b8f CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab64b331-9225-4db4-ae20-95d15e5da04e CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7668bb58-c46a-410f-9192-9796a4205891 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59a5c219-3c1c-4047-abd6-de223588bffb CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3e9f34-0060-43da-ab3f-fb2164971cb2 CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5768f410-123c-4d86-b212-d0c806bb26a9 CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc6d593-0547-4739-893a-84f2c3c1b652 CAID:CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9eb4b3a-836a-47e4-83a6-59098a8e90b5 CAID:CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714f5e22-d125-4698-92bf-e8c1d7a5fd5e CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a48abe13-78b4-4bba-8d99-3fad40627f56 CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534d0fc9-b4d0-4f41-972a-f72e3af22f07 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d7cd7b4-e694-43c9-9d0e-86dce38d5a83 CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728e4085-7264-4f6b-88ee-9c55a780466f CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11328e6a-2027-4e80-bdea-7f3663831bb1 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f925a19a-f068-418d-bcbf-feb8f8d1cba9 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cce7fbe-1f08-444a-a731-4411f599c53a CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6e24a6-883c-4123-af67-ee9a971b5de6 CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb77cbad-733e-4d99-ae04-4a748ceb4bd4 CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db19e8c9-9347-4e89-80cd-b85279bebdc9 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8be16b5-c245-43e9-9782-6c1e6058e4da CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1085a3a-4b61-4c50-a035-83d3d9a39c3f CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc898df5-3664-42b5-85a2-a347d275b89f CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8416ab84-d036-4a31-8c13-2be583c3eb71 CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b59ea8d3-ae6e-4ca7-87f2-ac304aff74a2 CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038d8c2a-c110-412c-b9b2-e72c7575d377 CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d42c6d50-15ed-4fb0-9479-6c2ccf700a50 CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c048d9-207e-4673-911c-9b49c4d6d170 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa90963f-1b8a-4a7a-af5b-1c7685c96805 CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5aade45-d733-41b1-96d6-02fbc4b8a6f0 CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d536ee9d-a779-4e39-af2b-b40c4256578d CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044592a5-d62c-4d94-89d4-248e57e4ec81 CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b96b411-a314-4924-8dd3-926fbdbac465 CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a279fb-bf6b-4c54-88f0-a15adc502525 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 460910ba-d6e4-4675-be7e-6ac4f366bdb4 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb92fa8-2085-4042-9083-aa9b1301ff12 CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7601166e-c735-448b-a6ec-3a303ec04aba CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa593571-69ff-477f-868e-bd7072b5baf9 CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b35043fc-bf8b-47dd-ad08-53c454a0d42f CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e179046-0b2b-4f79-b0ba-7f36bead8cd3 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f296297-5cbf-4e2e-a727-25d9f19bd40d CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540e512b-f3d0-4613-af28-4df49ec69822 CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dac843b-01de-4b21-9214-848da8742a89 CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93482fe2-d2ee-4766-9201-eb372d51fc84 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05c92ce8-44a0-44f4-834c-ac6148ffbd86 CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8163760-14c2-4a14-af67-47778b2c12ca CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ecab4d-97ae-4455-aa26-b32d5577c1ae CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488c6632-cb2b-4502-a690-eb1ecd638932 CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc6f462f-fb6b-49a4-9f6f-258d0551a5ff CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870c8232-73da-44ef-a708-2ea1d24a1bd3 CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abd88fbf-ac60-4ab0-8eba-08e9eec9eacd CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b2e956-d45d-4bc7-bc11-2481368ec3e1 CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a71095cb-6b60-4184-adea-46fbcc6e1188 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2731b17-12ea-4bf6-8fa3-98fac186f5f0 CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 745ac53e-209c-4195-9647-bb271efe82f4 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06dc3598-ba8f-450a-8475-89192a82d726 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f1882c7-1514-4e55-95a4-763943a13f5e CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58609c77-c0b7-4662-a6fd-6b8b61d92571 CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e02c8da-1b47-462c-8326-4deb3c1a4d75 CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85214b9-4e48-4ee3-88b3-641765d6c731 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff1e2e8e-19a9-47cd-8b7e-26d4a67625d6 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042824a9-751d-4503-bafb-d3cf5ee16ea4 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f522587b-1802-42a5-b728-761cff01f7c0 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03335e88-24aa-4ced-b321-0ad951a95bb3 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba013ee9-d594-4c66-9600-5887f7174cc3 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f114f598-19f4-4277-9ad1-12a6670f9d7d CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c635a7-7985-49f7-a782-cc644b33aed7 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a03e60-4321-4f21-90a0-3cbbc2bb8acf CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d83245b5-7f3c-434f-961b-1600cc5ebc65 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef27b21-a669-4df8-a983-3fad4e1a05db CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b5cc702-0902-4cfb-bcc3-3834a5a9f893 CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86f897e-9ebc-41f7-87f4-e4b9480b7241 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0651da4d-7e90-4b69-9035-48446859a100 CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b8b84f-7d22-4015-a67c-df750c202927 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc84ac6c-87b8-46f8-adf8-87973c576189 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0820140f-5432-43eb-a2ee-65856e9025af CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d26b1b39-13bd-4be6-8403-bf7443fead26 CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75589a6b-56db-4396-9a1b-26ddbbb73dcb CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff0e52bb-e245-45a8-8814-996e04a247bd CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8494af7-ae6e-4639-90fc-d05c5bf63c27 CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a81f97b5-1ebb-4a24-88f8-dfd675c5c05c CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c737f9ac-8876-4cc1-8b18-47731fa09ee0 CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 899e6f75-0b0f-45d5-9209-8c0a4cc743f3 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4628335a-bbf4-477e-ae14-c0b3d2c7a8db CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ed44c30-94bf-4779-a0dd-7b16904348bd CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c1c34f-d953-452f-9efb-b47379868833 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af2877df-f0d3-4dfb-83e4-3caf66d3aa26 CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b262ea-f33c-41dd-8e93-7bf96d510a9f CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9927b9cc-2097-4dbc-93f7-181fa319c7b9 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d808f9e-2e8c-497e-9623-20a6dd7636f9 CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cacd9ec-f0aa-4dc6-871f-3ea71d9c8eed CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25da0bc-7b11-4c9f-82f2-cb168ba92967 CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15a85bc6-c291-4826-905c-0c639cc1a18b CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92141f4b-ed9a-41e5-a2eb-ce933421ee9d CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5889e260-dc2d-4f73-97cd-501718cc369a CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b549e0-78fb-4fc2-9c68-8d347f6add4e CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e64fd06-c254-48ed-a0a4-5098f5540377 CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b45d268-a26e-4ef2-b288-c767679f88c3 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 267597e5-087c-44a9-a2a5-f86bd4a19522 CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4e77aa-a493-4d05-b7f6-a41321531ea0 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3651d124-e6b4-4854-957f-affa4333b736 CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2185eb3f-7f06-4458-9a4f-7fae82103711 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40633069-a9b2-4087-84af-0103ffc37f6f CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5c2ba4-1ae8-427b-9e0e-540f42d417f0 CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9442c35a-3786-4239-a991-8c6d3a6658dc CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4854caf0-bd12-4977-8aa5-e87b39df39ad CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddb66b16-5eb7-4684-82f0-3019a0d394b5 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5f2a6b-5598-4df2-af5b-e8c3357ef0fa CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d48d069-bb84-450a-ac68-f400adc8992c CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33714e9e-c058-4223-8758-8dacaa6b6220 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e686d3a-f741-4a69-b2aa-e725027ba192 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c3a383-bbce-4539-8c3b-7a3d83b635e7 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff8d365a-8ce8-4d64-9896-a27aca2c1e94 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f856a934-b650-4a67-9ef9-3b7bf6b9743e CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 285e508d-0977-4070-9261-ca39f2941827 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb5440d-6250-47bf-abcb-9f0f3c8e79bc CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c60c220a-6029-4726-92ad-48122e954c62 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397b5ff5-f838-4d87-b19c-a51b5e839fa5 CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30447e2a-fd87-4af1-bf4b-2b12b95dcdde CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530e5636-dcd7-4185-8857-e61009bcb72e CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45dfc0d7-5fc5-410a-a03e-608f1eb0e7bf CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9795d3c-34b2-44ac-b92a-c98ee7af1a16 CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d6be204-b59c-4a08-8e20-331c6ddf68b4 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97176cd-8d3a-4b62-a00c-cd91e177fc7f CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79f6036e-35e9-4ca2-852c-1ccc01a7f787 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbba3f6d-624a-4cfa-904a-f38ce1c7b15b CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0abe417-e5eb-47ed-be14-1f4f0526e3ab CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972eb846-93c8-42bf-8dad-7740c504d881 CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09bebeed-cacd-40f1-b43a-1e6406746536 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3dee6e9-2437-4358-a727-6ff98ac5e25d CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f548550c-a73f-4bfb-adf6-f5e1787d2aa1 CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d6cd6d-5125-40e7-a255-a38e2cca0200 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79056bbb-81ba-434c-be1c-03959d096b3c CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08ab16b-d28c-49c4-8f11-0d6d6dcfb333 CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da66250c-408c-41c5-84d1-f5acfdbcff63 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98840f42-0169-47e0-9c5a-ec86b5f16675 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a66889f-5f7c-4ba4-81e5-390df0087596 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece116c4-9822-4c94-9909-10a586d4d4ef CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b52621b-d956-4516-98ee-e01ab6296bbf CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434bd702-2256-408d-a377-d5665c1a8a49 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81470989-f6c3-4a9c-b0a4-da687002c6d1 CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a701e33-2637-432c-91f8-e0c7acb7c9e7 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50e1b2e1-ff9b-48df-a12a-2a0f498ac37e CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95bb5ee-9b59-44cc-8e73-fa9a500cd9cb CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59441700-5a05-4213-9ca3-f5350ca96951 CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db262f9-58c4-4fbe-a823-9dced4bbdcfd CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50ad7cf4-ef98-4cf8-b99a-0529beb26b8f CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8908ac9-33c8-4925-97d3-3d3e2d77f5a1 CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3543833-1ff3-433b-8094-43fa5bb70c5d CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160345b8-b2ff-4a0e-861e-7593dc61904d CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0be7edc-6477-43ec-b79a-563fe0800adf CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0009284-2e94-4b62-baea-4d649b03e66f CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeb451d9-205c-4bf9-bac4-078167e08b86 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8928b3ac-9657-45f3-b826-7a3b51ae19a2 CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbf0b87f-3a63-477f-b073-4daa26e7608d CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19723c00-d519-457f-a27a-2fd2f9344c7a CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a344b066-59b6-48d5-aa83-388d83ef5106 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bfea94-fcab-45a0-9678-5e538127061b CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa2e6a47-6a01-4c6e-80cb-5ea6bfb72d29 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b2eca7-5c29-4486-8b24-377c3db92a38 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4b90c75-c856-4683-9a93-10af61e5ac16 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a335883-9349-43cd-b0c2-330e583058e0 CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8a550b4-f5d1-4012-874d-06a80b7375e1 CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2eea113-c04e-4aa4-b191-2af4056b045a CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a153db35-2d45-4ef2-ace1-18d74c3e79fb CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d58d74-dc59-4d7e-9c42-a3a3238e143e CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4b80666-fc4f-4350-ba3b-65b3249c5904 CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256e2684-5420-4a4b-8871-ceba537d456a CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 454ebbce-05dd-4e43-bda7-6e41fae9b09f CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24084ae0-eb65-445a-be18-8365e130ecbd CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e73bde1-0bc8-48fd-9971-7db2290e5abc CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bd4b5c-6a38-4177-bc76-0daf632e160b CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6073f4b-1f5d-47e6-b475-bcef4e641340 CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0230597-442c-4e32-bb77-534eabcf68c2 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7adeb224-32c4-425d-82b5-eb42aae260b0 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da38ada6-bef1-43ff-9441-cb2f4ae298cb CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17656e36-5c9b-4a4b-913d-12a4c8f31d20 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14964655-5a76-4a50-a26b-c941471df8e8 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfd85ec1-4aea-4729-987e-8db179bf4525 CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba546b8-a0bf-4cfd-80bc-8b2443826afc CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 614e72ce-951e-4864-8879-5a26024db85e CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46146e9c-0c57-4f8d-8bd5-c367e6fbf6da CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcb8e8ec-9e3c-45e3-af71-e8bd42e8bd3f CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20bcced-e7ef-41dd-9038-72c4dbbb41cf CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ac9af54-4385-44ff-8043-319f130942af CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cfd5699-7e3f-432b-9d2c-fb5793086303 CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67974528-cd6f-41e0-a1d5-62a923840666 CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3d00d2-2719-4ffc-9ea7-fdd10240adfa CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a25d1754-fb84-43cc-b95d-b98be3d53ba7 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b938183-4a8c-4a50-a5e4-5507127210f5 CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 187d50a4-eb3d-4577-b759-2cd98e0f0d67 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46a0aee-b202-4d34-88ca-24de02a659af CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58637483-79e9-44d2-bac7-8109deb839c7 CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052598cb-fd20-4606-a87b-a80eac6322b1 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e62a5339-06f3-4301-bb9d-06d8ff81ccc6 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90fd09d-6f09-4021-bc0f-d51066a93577 CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe90bd8b-6012-4247-89b5-ebfe6d54a4dc CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1522eb70-a7f3-43de-ace2-b27026c3f196 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88505ec8-26ae-4fe5-8670-377fba6dffd7 CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40330434-b226-4427-a75d-97bc1563b6d3 CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2147cbe-9a3d-44b9-a35e-e6d21d733bfa CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffe0600-1d9b-43ed-94f3-304196df83cd CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e018058-1602-44ee-b5f0-20404da5f164 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ec073f-21ad-4128-9f7b-b124a0526ef6 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ff3305a-8deb-492a-a5b1-bb8a06606a00 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001190f3-71c6-4118-a8d2-c3e629de5343 CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 395d259b-2f6e-4a92-886f-17adf943fa71 CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e33ee4-4bc3-4c6f-af1d-3f7af1a088a3 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b657b4bf-2cda-4f6c-b703-587b0d9f6012 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31c4b6d-9567-4929-bd39-3d846c813e04 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30e22416-2b66-4c89-90b6-a883fd5f23e5 CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 559a6ccb-ebd1-45d1-b0aa-b6c545505cad CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4941f00-2a58-4fcb-b74e-c69016243889 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f477ff-b390-4e1c-b890-c70584648079 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b1fb541-8725-46de-a303-f09b6528d1cd CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabdf79c-cfd8-4c25-b3f6-ac9723391f96 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8eda42b3-0143-498d-ae1f-eb0fbc8e287d CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bd0442-c26a-4ebf-afb8-bbd44e67e8d8 CAID:CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc03c89c-de07-40f4-9e92-0b0a23bcad73 CAID:CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbddb9b2-ae00-4084-837b-1ecaa91dc3cd CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bce950e3-9879-4579-8648-aace43bcb727 CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bab2c4d-1bb0-4dd3-b64c-acbf613f3a98 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e622c484-8df9-49ff-97bb-901de5d6dc68 CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ca405b-0e48-44ce-ba09-44e58d521f5b CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eca6f29-f181-4fb3-90d4-7d19d447de38 CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63c9d0d-be58-4e30-b287-ffb61b7754dd CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cc09743-e438-4d8e-8344-80490f48a90e CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90fe8e4-5b45-44c9-aa62-5c4cd5132e83 CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afc0df8d-95f7-4ef5-81f5-505502f87248 CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbadcd3-4c22-425d-8a53-f4e0b7c1baa3 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbaac50a-237d-4ef8-b36a-66f0539e3da5 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bca9b56-db41-451e-a833-1fe19db6445e CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b7f7971-ddc4-4d61-809c-fb8aea0bea68 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b186dc05-0b2d-4664-bf40-ed9be3a1926a CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b8c272d-d838-401f-9eb2-df76f5733f64 CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb1a7c4-ea19-4157-af12-1a76e398d2fc CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a03be907-d97b-429e-a23c-a6130e6aef88 CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180cad26-8b95-42ce-8a23-886d21923b5a CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b697140-c72a-4e10-b930-09da1f64b88a CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6baf22-76aa-48ff-955f-a57d252936b9 CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc85056e-4546-4421-b8d0-7de8310a10d3 CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dfaf5b-6f89-48b0-863d-d4694d5cc83a CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b40abbc-c662-4d8f-b0c4-66639ed70958 CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42177b7-2ffd-4d9e-a3cf-5be0e0b7a53f CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590e9606-5160-479b-a509-9396cc667398 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03359999-9290-419f-915e-df44039ecb72 CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e566377-7e46-41f1-95b1-4ac00b68c7db CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7630da94-40b4-4dcd-a6a5-70b4dd10daaf CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6306a3f5-99d6-4b3b-8b3f-ea18a78f153f CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47c09ad-e85f-441f-ab85-e7cca3ff93e3 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bdd308a-e5f2-4a9d-b6be-059a2c97dbeb CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd894fc-0b4f-4829-a68d-078d4e581307 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a9cbbe9-94b6-4115-a721-33f59853ce42 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dace8ba-e72d-46bc-a710-41daf39f1490 CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 979aab0b-79d6-484c-b2a4-1f2179a3b179 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bcc22e8-e79e-47ea-a22e-85ba243bb459 CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8721ec65-2749-4eff-8f40-9a9df00343dd CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf5ed1e-f328-4b90-85ed-02f54fee44f9 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17bfc6f3-a45a-43c2-94cb-7334d6e20ec5 CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2a23d0-f396-4097-8981-c3147d313304 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a256c9b9-3302-44bc-ab46-7ef783701dbf CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126d7775-c358-451c-b212-58ccff4e34df CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43cbfb07-e424-46f5-8bf3-aacd9d0f32b7 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b02ba0-3660-4086-8e5a-093ce1479810 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f32be7f4-bd75-4f56-b8f6-9b7010eff355 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d43e61-5cb7-4af7-a327-b346155aa5bd CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d621c0d-e366-466e-acc4-ec52424c8695 CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f389796c-de3b-4793-9aab-7069789dcf80 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d9f0b36-f494-4c24-8461-810741c1bed5 CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d03843-d198-41c4-b9d3-caaebf8eb71a CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24d59aaf-a0bb-4c8e-9750-e7e884c35e45 CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f140595-a06b-41ea-8b6f-e231710cd919 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e86ba835-0abd-485d-88ae-dc01e77351d2 CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af812310-acf7-4f85-8d8f-934ae7a70a43 CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d8876d6-c460-4620-b551-439c532c06d5 CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26daf512-747c-49a4-8c5f-0832cbaae325 CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 911b78ea-0b73-4710-b730-875e90c75b25 CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599a1ee5-e74a-42c7-8181-f75f01b1c3f6 CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e2b20fb-512a-4415-ad2a-7f01ab867518 CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8aeae54-4519-4f43-a8ba-858d97ffc364 CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c022e138-dd2b-411f-becf-88b68c0718ea CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b3e2e1-ea91-4f2f-84d7-3bd456e1ac84 CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f8370bc-2163-4752-9973-e07cdb638bfb CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba53c23-dbbe-4cdd-b949-e26e3c6d8565 CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70a7923a-ad9f-4927-86d4-c23d4f14537f CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936e596e-c931-4f10-8b88-24f35b00cf97 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c65d879-9250-4b63-b9b2-87e30e7270ed CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64c4571-2f40-4f3e-a606-0f00913f73ac CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7803b931-222b-4598-81c7-25c0be8a218c CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2134d4ab-28cf-48e6-b487-5810fbcea165 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 016c0d3c-cef6-4603-92eb-7a42b364ce9c CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7736b433-ab1f-436a-ba07-c2e49ea24644 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bea03115-53b6-405d-9182-d7c3fa728e3a CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d039793a-da52-44c8-bcd1-87db8b8d13a5 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b68b1f40-1622-4c67-8b95-276a332d0963 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98037dc1-dabf-492b-9266-5e70d8f2303a CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d73a5ac4-1342-49e5-8adf-75322eb625b6 CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b931a58b-540b-405e-940f-844af8cdfbb9 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9eda973-e82f-4669-b770-9663cc5639fd CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7662f0d0-37f7-4374-96ff-325f2dfc7183 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ce4c74-e2b7-40ee-839a-e05e7ab2fb7d CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7588d3bd-1e11-43d3-8176-55f7d65ee896 CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75fd3e1b-6c51-4126-a306-0588eb81ca1a CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6558e6-2871-4eda-ab04-84481699df2d CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5303c693-5ef6-4d85-8b0f-d441cc5c76ce CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c804f874-c8e9-44a0-b9d2-cb932279f7ac CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ca1f389-7d4c-42b4-a466-e5a2dad32d76 CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cee583-6d7c-4366-a488-e4b2fce784d8 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e34d5aa-6fe9-4bbc-b651-55e67645fa7f CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b025458b-f6d6-456c-ac54-10d48c2c00eb CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23117dfe-0817-4537-b0fe-8824817bdd6f CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29c385a-78ed-4ba8-8a1c-3f9656a93a37 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fcd1fb2-31c4-4622-b5a1-5a0d490c2a7d CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41d76ad-9a66-4599-a49e-7641896ec453 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd12c82b-fbd9-49c2-8b6f-6419604ae298 CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1431bd2-178d-4694-a8c5-7cfe4b528b8b CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 426f25fd-e285-48d9-b23a-aabd323c3651 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af588566-872c-4f0b-bb64-825a2c86405d CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55bc9b50-2df8-41b8-b0d8-ec41144f7da9 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df53d9e-2da5-4939-9b50-12ae77be404c CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72bd0788-b3ef-496a-a8ae-b00d9988e49b CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fc1c00-e934-48bc-ba21-22f2bf6ab0f1 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a89783d-0b3b-44c7-8e8c-5ef9779204a5 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d411e8b2-6b3a-4bfc-8a5d-e20fcf095fbd CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 563b85cd-cb2e-408b-a2aa-2161709aba81 CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e90e43-6e91-4ede-8678-c7966390d0d0 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49866a93-2165-4982-a7aa-18158b2501ec CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9f5305-5422-40aa-9033-3625bfef5da1 CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6b7e2b8-921e-4ce0-9466-664a7fe43c6d CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42656202-e968-43f4-bb4f-576cd8a2c165 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4af305f7-b363-48d9-8047-af26ea153df4 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408cbff2-51f9-47ae-be55-86da163fbde3 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993d9b7c-2164-4e09-aacc-3b9e872de2d8 CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0483a6b-804f-480a-ac2e-c3d3b0b3da05 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa48b574-412e-49c9-84bd-82426abc1709 CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0941648c-102d-4e23-8f71-ce139db6b85f CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aab299e3-1eaf-4a97-b995-79895a6deadf CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33ec736-d657-4680-a970-57734d86e5fd CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d4be45f-e179-4c30-a736-08d218153479 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7592d3f8-65f7-4422-83df-98226da0e13d CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfac286a-dbe3-43dd-abf6-2e35bdb8cd61 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e873e8e-484e-461c-8f98-a321a697869b CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fa7a3fe-03bf-4bec-bded-4c0da3ba10b9 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49348c6f-93e8-4652-9623-89779b16c99e CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 413a5cbe-c9b1-4900-b2ac-3f3c3f6bb454 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c5f6b61-e9fd-42f1-af38-e3a1a070c6e7 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5529538-25bf-4bc3-9f69-89a5d5fe0be2 CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea95f061-46ac-49e4-add1-e9b1da5ad518 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43159434-c4c2-4e03-8804-f86ed6d21706 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436bacfd-1772-4745-9d10-19614596dea6 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a85f2b-a64e-4f92-86ae-1588f727ad3c CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02de40f6-d152-4afb-a64b-2078bf56bee5 CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19ea31e7-ed8f-48fc-841f-6dabd3b2e91b CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c094249b-3e00-43f0-94e6-71b85975bad2 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3226ee9-afbc-435c-b72d-a79064ee6c9b CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c478059-47db-4411-a8d4-5f84d6dc1702 CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f4da559-2788-40b1-af0d-04ecc9f2769c CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f9083b-75f7-430c-8d6a-0fb215e38e73 CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d479a58b-2d40-4994-8382-8ab02fed865c CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de25e375-7180-4077-8468-dcd3e71fa1af CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08318d87-784c-46e8-9582-ffcc6fe1124f CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76b9559-47b2-4e8c-a229-667f6b0b775b CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12e1a319-1db5-4fd4-85b7-c7620283d136 CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bb8f2a-f38f-42f3-abcf-9f9687e9bccb CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9ccd555-ec23-45d0-ae8b-29f262cdfc0b CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4b68b5-e9d4-4d25-8da6-f5cb489429be CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6077555b-f64a-40fa-b00e-07d894802171 CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64260400-af52-4739-89c4-e9e547e7e823 CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a6a9a4d-4abf-44ec-9ac3-84bee9ad1cf4 CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9331c49-591a-43de-bb86-69cd26bd1abb CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f320abcf-db6f-4c25-a8ad-5dc03027bef1 CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0bb2b82-8be1-45cc-b93e-5fb9f4117d46 CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d664ca-efc3-4854-9bcd-29a2dbbbdfcd CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d01fd5-d9be-4958-ad0d-35dcc4003f8e CLINVAR:1698837 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30f1a64a-6c13-4350-8ff0-2776e78aef31 CLINVAR:1698837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05b034c-a5b9-49a2-bb5a-5de5b3387589 CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b91c9f94-db5b-469d-896c-4709c2140821 CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1757320-d0c1-429e-9dc4-a0e361760f2d CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c07b6f6b-5d6d-44b0-8a1c-1e4a4180c082 CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31721c59-dd3d-4014-946a-f1dfa676c505 CLINVAR:2498106 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faa71dfc-d084-4042-8507-ab9dc6edc121 CLINVAR:2498106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a1ef37-2051-49cc-a17f-bea4fe067350 CLINVAR:2498107 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0d814b-8bd6-4308-90c0-8a3fbf3760ce CLINVAR:2498107 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f138f929-f399-4935-9e19-3f9b449c463f CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06a9f37f-6d10-48c8-9cbf-4618832d464b CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126f9b10-215e-4467-a433-fc4f4f24dfa2 CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dbd60c0-1aaf-454e-98c6-7241a260646a CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e86259ea-5c7a-4bc1-a7ce-847a7b7af299 CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 414d1b54-3c4e-4887-b3dc-2c5c566ff07f CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be49e1a7-9091-4ed2-99b0-96dab6632061 CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e2cce0f-cf5b-4008-ae9e-5b76143b39af CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5d1482-b546-4e69-b9fb-2fb8bf28b68f CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e16b7f8-7ba9-4f11-818b-083bee2e024d CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952391e3-d00c-4931-9214-dc391135deb6 CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 341cb134-6ae3-4954-9419-a7ac1228a4f7 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92704ad8-a56b-42e8-a54d-1bede0ddba3a CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71cc1479-e6a5-4c83-b21c-d09583a7ec8d CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e676035-3162-4f8d-a36f-9614eb84390b CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bb820eb-d3ae-47b2-81f2-d4ef2047a81b CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b906134f-bd5d-44dd-8381-87aea7c21e9e CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 674fcbc9-ff47-45f5-bffc-fe838e0632b9 CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00fee77e-a454-4bf1-ad7b-c22a4f49f57c CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5bcabd4-8fc9-4b1a-ad29-5707a357b24c CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091ed7fd-8b6d-4ad6-bdc3-d7aa707ba253 CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a28d27c-599f-47e9-a23f-e028aef75a5d CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54aa3d9e-ffb4-4d08-806c-668664ae3c1d CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a89e8c3-27db-4d3f-a95d-bf44e11a8c14 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79be69e3-86d5-4b11-bacf-933c793b9518 CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c46738e-9d90-46e2-94c6-49d797f449c4 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7c8c8d-b29e-42e3-a699-1c86f9771033 CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 947a084b-5efe-4596-9faa-00996ee3056e CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f9c925-3ab5-47c7-8ae8-34b2398cc794 CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9157665-9a2a-4e11-8e3a-f3e9d8244e73 CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21600cf-58e6-462b-90d9-73adb5cad01b CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9423368-d04b-4bfa-8dec-4d42ad3c0e58 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7502eb-874a-44bf-950d-509c527319b7 CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00db5ff7-36ad-4ad7-b6ca-6afa06947b73 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905bc94d-6ef9-4688-96e5-22db8b62ac40 CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4da5472d-4e1c-4c95-82bd-330070723644 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ba0814-7f66-41da-9613-2e7ed70aa5e7 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a39b8eee-14b1-4005-a0c7-593e94e49a3f CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5324aaca-2754-49d0-9a50-2053f056c8f8 CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 862bcbc8-419e-41cc-adf8-a60ef5e8ce10 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49867457-9f66-4fa6-8d96-d396a803e5be CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 771dd907-2c67-48d4-8ca4-4c1b6fcae3a6 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963ccc13-f159-4424-8c73-4b996bc73e69 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be85e6fc-91be-468c-9023-020061ce99da CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62447bf-6a40-4c69-a3ca-2b080f724459 CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cbac294-1e4b-46f5-ace8-5bd3abd74830 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a67e92-071a-4d5c-81f2-6e8af6773408 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cc1d8d8-27d5-445f-89d4-4e3c692c9e1d CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26585a78-a6ce-4698-b1a7-b054914f65a0 CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73fdd169-abdf-4bae-af48-09cee1930e94 CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab703f00-c74c-4108-986d-e959b72eac0d CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 090d9561-aeca-4c2a-a2bf-d4faba860b2b CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2549ce-b397-4e2b-a0ce-c02cdcc59bc0 CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19d92316-299b-4539-b54b-df423dc31ab9 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5456b572-260e-4277-b98d-5aca5c818084 CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b0b90da-fbfd-4c2c-8b53-2bebac9b9f18 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c43f28e-8f0f-461b-8c9d-2381a347c555 CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27ffdf3e-ce24-49c2-af94-e40b6105202c CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68930004-54f9-4d24-881d-2ead7d232394 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a6a94d0-8a2e-4815-9475-f3d030f93536 CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda9393f-fdcc-4575-9100-43839b625f29 CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5faaee71-ced0-47df-b630-a54a4bb514ad CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d71dcb-0f21-4118-aab3-d7d412545d66 CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f945a868-109d-488d-8184-c1ca305492ba CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f28d337-6cdf-455d-b629-8565ef583295 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 404dd5de-43cb-410e-8913-de6e19039d48 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71545e28-b544-4fad-84fe-92b4e90b7f6c CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25eee126-7cf4-411d-a3c7-bb484ccf937a CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1f7bff-7f07-4636-8a01-620db8c55a11 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f54604ae-376f-4fae-8e19-0f47eba665e8 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4740cb5b-65cc-40b5-b138-ed643c89378d CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0f51374-c5b3-4dcc-930c-ab836a479ffd CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519e71ae-e83b-442c-9838-11f781dd025f CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93ff2d41-03cc-441d-a4d2-c3c7928aec00 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53a5e00-d2d1-47ed-8c3d-b701b05977b9 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ce61245-485b-4b68-b166-ca8df06b542b CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c08b09-ca2a-4ff3-b859-2b2dc7a1f6c4 CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d7246e7-1f87-47e3-ad57-0ef39a537ddb CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cf9eaf-a0fc-41aa-abe8-44dc72bb18f5 CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1d03784-8899-4f8f-b200-8fa5fcc07422 CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817eb53d-ceca-43fd-99e5-ba894fd6a981 CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77d18546-7ae7-410c-944b-604ef05d8cfd CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c298b90-97b9-4057-a524-96a77116642e CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66bd3346-081d-45f5-873b-7f8e3e5481ee CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb0efeb-446e-40be-871b-937768770609 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c352f4-fd85-42cd-9771-81d044a011f5 CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a333740-dc1c-4e6a-88f3-ecd6d9aba6f5 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e3a1d5f-aa78-4dd3-8fb5-63523ed07438 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1de9e3-c32a-406e-90ec-7694ed9c5251 CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 571bd754-9d9e-48e3-8f63-04bd9d168ade CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60888782-ebe9-4f77-8a58-6c61829c596a CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4b705ef-cfff-4b18-92a6-7b9f505e7a89 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee29930-2b3e-4934-b378-2ac9c9f96c50 CLINVAR:2498370 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3912ff4-e8a7-4023-96b6-36381adaa8ad CLINVAR:2498370 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c9f7c3-714d-4e68-ad6f-4a598f419876 CLINVAR:2498371 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59549dcc-3b1a-4840-b66c-c00a73dfad7c CLINVAR:2498371 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5ce87a-7e20-4044-b7e3-7d252ac570a9 CAID:CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31def01f-1004-4146-b7a3-1d0f20fe73dc CAID:CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e60700-0988-42f6-97e0-31ec52d20f10 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd0518b4-6aef-40d9-b219-23dbcf7b03dc CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce78b30a-40a6-44d6-ae8f-a52472c39cae CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6b1f467-51fc-441e-940b-c26364d3ae9d CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77274d81-24fe-47f6-8719-e9e03aaf2036 CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce95d2dc-70e8-4b38-937c-516d24fb1263 CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6707182f-1144-46ce-b9bf-f7640ef923e8 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e5a1fba-406f-4cff-8be1-fb240cdba56d CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa72bb7-df0c-4e04-9547-fc3525a3dab2 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3e1b45a-ba77-4aab-be12-668bc8a582ce CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c403e76d-552c-4953-b749-6e7a73a97a0f CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b078c91a-093b-493b-8335-c6db92d05cc7 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea46d0f4-b2dc-4975-863b-bf81f2d65b60 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf47092-cc8b-4dc3-b7c9-0353716c9b43 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77723bd6-8393-4eda-bab4-e900893630d7 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6abb395d-0e8a-475d-9a37-c7d5957b441c CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825a1195-68f5-4f1e-9fe1-86b68d07f91f CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4741b934-674c-4fa2-83b0-9fe7713ab821 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb643da5-1699-4224-8bb9-31270d5f96ce CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4cf6c9d-86b5-4b67-9d2a-b136d41eb2e8 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889fdbc1-e183-4d35-91a1-f1e18c5abf09 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 701b6b6f-8b82-4fe9-9c75-73a4b800462d CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539f59ed-5201-4075-8e08-098b5d86cdbd CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5bf2a05-af9c-46f0-983b-db6a307af092 CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fd2b0f-8f61-41f9-8115-fa5bb93ee580 CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaf21262-1111-424c-b21c-1cae39658761 CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08be28db-7b14-4e90-8ac4-3679b7061d0e CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fc1e2b8-729c-4b5a-918b-27d0f7306946 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa82258-7627-4eea-8685-3a54cde5c1d6 CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d608aa00-33dc-4c6c-b0f4-098a7e330765 CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4bc091-a138-4084-8741-a09643c647d5 CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5aa1f6b-cb8c-4d3a-bcc9-dacb6dcc76a0 CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f6c060-9c0a-4e1e-baa2-79aa0e8f222e CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7681113c-dff8-4b1d-a16b-eb41df781898 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597e0a4c-d886-4284-900c-905f02d8600e CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adec3281-d0fb-4e77-9576-741cf869d477 CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cb6df10-4662-4d11-a676-93ca2104ec5f CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0134e7-b647-41e9-92e1-1bfa6d319daa CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5e6c20-ce9d-4e95-83a7-b12ddd1de15f CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 003588c7-5d0f-4fc1-82b1-7bda1045241a CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae81e51-79b6-42d3-be55-634cf59f0428 CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52a23b85-8f5d-4fdc-aab8-7739a865f995 CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad99199-8ea0-4c06-9964-8db4e3726ea0 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12374a1-dd59-4737-9090-740496c600d9 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60501fd-1ea8-4174-92a2-879b5a239955 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce55cbcb-b028-4667-bd8e-d49c1af8ea28 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1a2a00-3c38-499c-be29-d08859ceeb93 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0009d231-ed69-42ca-a7b3-7801fd35c0a7 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa71f9a-0047-4d24-8226-f5810a0e30f6 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11407889-1076-4ffd-bb59-f6dbcf7963ec CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2dbe12a-2bab-4d6c-972c-aeac775a07ec CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6fadd3-c7b6-4c9b-a4c1-4e3b8ebbdcd3 CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2184f715-b5e7-4a64-a888-e117c40039f5 CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39675e66-9621-4bf1-b3bb-405bc81cd240 CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9680676-60f9-4808-adf3-b1dd790acce3 CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17482488-f3eb-480c-8694-329d1ca09745 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14eb58b-4037-46bd-8036-d050d3fbfa48 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb29e377-66a4-48fb-82c1-a8dfeee217e3 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a438b1-b07f-48a8-9a31-e8887b2db03a CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de3ae0d-a258-4e86-b209-12306764f7af CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2380ec6a-0f0e-415d-b891-919cfe1a285f CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db95b70c-f390-43ec-b4f0-e512aa356876 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb7be79-ef86-4a49-8cc6-641c39a51424 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38069384-4c43-48bf-98ac-424f52be78ed CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58d8524-022f-4c57-a358-e54e7e840b5d CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86bccf53-4047-43d5-834d-8391264ea067 CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc31893e-6e9c-48ed-941b-ed04d0e2abaf CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e5457f1-001b-44dc-a308-b4dca870f671 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0daedf52-d502-464e-8aeb-819f19a149de CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3e48ec8-cea5-4f7d-83b6-3bcb847c3b83 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54ed7f8-98d9-4e25-a447-3228f5362f09 CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29808a2a-2346-4163-bc06-0ef4b16fe5e8 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1eb73b4-f06b-4c4a-a7e6-8b93425b84e1 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 744d4c1b-99e1-44f5-9fae-367a31fef4f9 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed1b74f-1660-45bd-9b32-f63ff8d1f802 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19e53202-7fa5-45e7-bc2f-a0c1810be4f5 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd508bd9-96c9-4314-beca-0b4f3dbeb4eb CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 287f049a-369f-4d72-9b83-9ec22c0a85bf CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28f25b9-fd58-4d11-a179-0785bfe0cf17 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 835308bb-86d7-4cb0-bc9e-966e4fa1981d CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a8a42e-618e-4f83-bc8c-eb13ac750030 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c890b2d-7919-4307-9318-a145fec4004f CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e55bcf7-9cb4-41df-892e-8128df4f3e91 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68f8054f-b93d-45ba-83f1-98c76eb889a0 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc14966f-a26e-40e6-a8ef-6628f0c2c1b6 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32be44ae-9f60-49b4-b867-55d5cc318c36 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da949e73-a96a-4a5a-9d2f-f6180d744c30 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 542d5ffa-97fd-43c8-badb-204a391d0a82 CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2266cb6a-02e4-4cbb-a2ca-88173542e77f CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f69144a-49b6-4a87-87c9-2937d519a7b5 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9fdeb4-c77f-4f3c-92eb-1211a67a35a5 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a191d3ad-d860-4775-a8ee-bd6e3b6a6111 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2062c2a4-e35d-4e61-ab4c-67fcce8745a8 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29d57ba7-98a2-4221-a641-4e1e2593797c CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9227c9-548e-4855-bed0-6c28973917bf CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b0e2f7f-e854-4eb2-836d-a0b53f9c8fba CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6a6789-b3ba-4998-b90a-01650fb109c3 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe866bb3-e742-4348-aff5-77b15af27539 CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23291333-5ed5-4e0e-ba5c-bc2dd959b024 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37179897-0950-42b5-9442-02955df144f4 CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f804c61a-524f-41b0-a2e0-815c804c3ba5 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d619450-614d-4a6c-9398-0ca82f2a9aa9 CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 697396e0-1b65-4a03-9c23-686224049534 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f3a36f4-90b3-4572-a941-e6663e9d5ef7 CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be0e2fb-d126-4dc6-baa1-0384706a673c CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a1612d5-4a0a-4b96-8d6b-217d2266afdf CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3cb80de-c000-435c-b92c-e6ac5f6f6f87 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b30efb9f-2436-49cf-90e4-e9c2fa1dc949 CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6e95e8-edc0-4b6f-9b6c-564fb86723b3 CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8af5d85-7aa2-4b7a-bb5a-cbdc9f76e04f CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53194741-262a-411c-bb49-26934804bb0a CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 571169a7-3a7b-4df0-a2a5-157cf31fe061 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0278522a-dc27-4d3d-8b93-ccf52433e070 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc90eaae-ea65-4838-b21f-0e212e1de995 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e75a3fe-6d7e-4a30-9b43-a67fa5e0437a CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58237406-41c9-4f35-8363-c3ff1b2e424f CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf82bfb-ebb7-46f8-973d-a7c7b3ad67d0 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a919e85-758f-4238-b15a-8357b0a3e462 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331415f8-8f6b-486b-8001-2b5e2406f76d CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ca8d0aa-7b49-43c5-8a3f-8d05d5ed6ccd CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29023e9b-be43-4b25-a89b-602edf6c2ed1 CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0c5cedf-455d-432a-a162-e7a482e9761e CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f44f1bb-e1dc-434f-82e7-f53e03f949e2 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c76b3d7b-3295-4cfe-8ad6-7cec6d0b6285 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6bfd82-ed77-4f3d-b3c5-f42e55b280a5 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53b56fc4-cb0c-4c72-8d1c-f37cbc965ec5 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955addd0-7c64-4af4-a208-6c70fbbc41ae CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 696cc07a-6ce4-4bf8-8295-83473dd424a9 CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80644777-d683-48fb-8d58-f3ee0205c72a CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4ab7a2b-b1cb-414c-b8da-06f97e49b3cc CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78c056d-5522-46d9-8808-c0196f19f264 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82c0683a-3980-432f-bca8-9e37f7d020f6 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3ff776-7094-4981-afa1-cf4d2f2ab4e7 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb03e24-47a9-4577-9218-e9e6a666c655 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ae303a-adf6-4cbd-8153-a6a97b7cf47f CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12002300-0aa7-42e7-914b-4873fcbe67ce CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458e4d17-c383-42a0-9ec1-cb58d846dca0 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c312243-a94c-4142-8685-f7b6a86e1b0c CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ceb43ff-658f-43db-ae56-173746514b8e CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d32fe5d-e6e8-4a74-8751-4d7609b2f276 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd614c4-6178-4b44-b4b0-8d880fcd12f9 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1b00e2d-d0d9-4e53-b3f4-5a8d3d755c52 CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125a2bd2-d92c-4b40-8eae-aebc3a37844b CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 520e4d47-a2bf-4c22-a6c6-656eb768459f CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa3e917-5099-4a6b-86a4-63530d79e615 CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd566a20-2a6e-42ce-a5e2-239473fde3a6 CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e969ac-de54-436b-bbc4-34cee3384108 CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ad2db86-fec9-4ebe-bb13-ee83c1565e39 CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe32a48-16b7-4116-8cd7-f23c0ebdf848 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59adfb36-8357-4622-9003-e4d99d615f38 CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b2c8ce-6bbf-4226-b74c-568db8d913ca CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1f49184-ead7-4f7c-b29a-1aab19867afa CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15fee6dd-f579-4cd6-8306-d7aa1c35f388 CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8d4c9e5-ade2-465b-9267-0c1640852c8c CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08723b25-2b43-46e0-9285-c66072233be7 CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2d371d1-7a69-4521-a076-61bed5b89d46 CLINVAR:2500835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023b3c31-8aca-4f1c-a463-7a6c03c1e6c0 CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 521fae52-efd8-4a77-8425-de05a6adc88f CLINVAR:2500837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63854ea-a76c-49bc-88d5-a9ac069ecb02 CLINVAR:806282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fb7c0f4-82e3-4ff0-82fe-ce4674a5e509 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85850b6f-bd4d-4ef0-9b74-1f1d98f4a918 CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b5a44a5-46e7-4ba6-a612-55063cc73b91 CLINVAR:2500839 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dcad56f-87b0-4009-a7c5-19a8399d4e14 CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a126dd3-58b5-4db5-8435-ba9842069abc CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be56931-aaa6-455c-8b9d-9e2dd3c84956 CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf74a243-2b79-48bc-9e31-893018fa600d CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa31baa5-80fa-4fea-b507-0096e0e999d2 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c74c056f-23e8-40a1-a67d-3ea00ddd1649 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eefa9e18-1f22-4105-a261-f058286740be CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eababc3c-965a-4122-8457-dfcf2c9a3d87 CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028690ad-e709-41cd-ac7c-faa7d3b27478 CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d01222cb-2cb0-4100-b7ac-11926e266008 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d730042d-5984-45ee-8b87-92eeece697fb CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e372164-e7dc-49a9-9188-6f722c6cb8ce CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f10a49-d191-4a25-9a24-4cf373ae964e CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6209bf9c-90bf-40af-aaa4-edfc25b7d599 CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c82c1b-0b8c-4275-8af6-b176f2c4f98b CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93fcd143-3738-41c5-a090-f52e36951680 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda31746-d41b-4015-a5ff-526a0ba6b8c2 CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17bc1047-fb7a-4fe8-98d1-00312338a66a CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b119a6bf-ade5-4c1e-95b7-ba93cd3efc45 CLINVAR:2500834 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae0ec3c0-0afb-4c20-a279-e92ec7a4169e CLINVAR:2500834 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6080d278-b97c-4b12-b993-5cd1bcd309ce CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa0a5c9c-ba7a-43d4-b627-668cf5caaf56 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1a63f6-5d3d-46b1-bfdc-608f5a852b37 CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8dabe99-95da-4fab-841f-0da41273d587 CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c62adf0-704f-4e58-9b1e-4c9a378501c2 CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb1a4154-c20c-4753-a46d-3bdb502b0601 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924d4518-1b14-4ee0-99b5-00af4e15ec2a CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ecd21b-ab0d-4e30-ae9a-1284672ab389 CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbba955-3cf4-470e-a57a-bd6d2609e982 CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67231639-2486-462e-844f-6b920d5650d6 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b290ce-e883-40d0-a048-dfcdf4b62ae4 CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e34f408-c3b7-4c2f-ad05-b1dd0f276f5d CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad55db82-115a-4890-9391-8d8d5bf4bad1 CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 638408e2-f331-4dda-8dd3-ff0ac3f52a8f CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ad53ff-f27b-4b19-944e-2596af9be0d6 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5213f1ea-ca64-4164-ba3b-4fac8f48f731 CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3837dc4f-a1ed-436f-83ab-f854384b9f40 CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45fddc7c-42b4-4043-ba1f-770b94260803 CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf45f13-42b5-41ce-8f0d-7fb4a5eb2975 CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5c6105d-acf4-4f43-9c42-d003fa0292b2 CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11609033-e8c7-45da-a2c0-72a44c2a8586 CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40f2090a-5cf4-42cd-9977-5cfcb452075d CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da11f3ec-3034-4ddc-8253-55951c32e744 CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4aaf45e2-8dbd-47d3-8fad-20f715472c97 CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fc99d0-6375-4883-9601-2281eb30be0d CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a79cd13d-7b02-499a-9bcd-0c11fa3b3d5d CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7083c41-a93d-4d37-9b56-e277e27e3e95 CLINVAR:2506410 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc06431-86a0-4f00-8cf1-374a46ef1efd CLINVAR:2506410 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18faa3f8-8cc8-4c28-9741-827f0d5ee2a2 CLINVAR:2506411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffec5d56-cc54-4a31-85ef-6b9fe4a2ab69 CLINVAR:2506411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e6852c-879a-4213-8acb-c4266fb09b6c CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28722bd4-ef85-4e19-9ab0-6256c302945b CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec641c8-2c66-4af3-b608-4b800ffed89d CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c48caa7-cf32-46fe-a306-831535923c2e CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd810843-53a4-4e2d-8285-a33499ae9d20 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31f9d9de-203d-4d0e-bb6a-36565e4003e4 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33163d34-11ae-4efb-afca-69c1656bf3e1 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33619c78-e65a-4331-9f8d-8860a70f38a5 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e452da1b-e35a-4252-8b68-04517c6453c3 CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c69c17e6-86f9-4230-b0ff-cc41775ff733 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbdf14d-cdd6-4d57-8745-26e8a5079676 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef3d6874-237c-42ae-9120-ce64a43689c3 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e786a0b-3165-46e2-b978-42f85a21d21f CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18bc8de9-e4d5-4e11-83bb-32de0e25733d CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5e32c9-fdcb-46e0-a4a5-46d1a374e97b CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9d1caf4-fb0c-4d50-89f4-5110eb35e041 CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24feb096-b31f-4faa-8371-73920a7169dd CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 514be085-1ed3-4802-8538-33ebdec0e930 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16547144-3d63-49d2-aa7e-42cb78a7efe4 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 323b090a-4b62-4730-a6e6-4bd364acf7fe CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32457feb-de24-4023-a696-36ac9b328f5b CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 087bdf3f-0d7f-4df6-9605-4c60085c1a2a CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c690b62a-1f1f-4a1b-be78-1644b8fe9b99 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4070fb52-4377-47d0-bf77-19e189f4b089 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6758a6d0-3695-472e-8f45-9afab940988d CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1f1097e-12ea-46c9-9355-a95e6fcff90b CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f13276a-961b-447d-a794-ecf976706957 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 675f50c2-e967-42c7-b631-8b2e6b06cbc5 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abf480a-df5c-48d7-bceb-e9e25b4f7550 CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe10d0ff-c09d-465e-969f-d4f26f05ab3e CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c898d332-25a0-4128-9620-53faa838adcf CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe1554f-9a95-431f-80b3-651a9afd3efe CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe033c8-fe53-4b1e-9705-69faa5376ce1 CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07614d83-f52d-42a3-ae92-fc3aa1d43551 CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ad9d3e-95c5-4fe7-b839-d1f7cc2e696a CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36ca4f20-aed3-4090-9f60-043f2733ae7a CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2390e64c-056b-4d6e-9ebb-d3b4bc7fb492 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 866d6fce-7917-4bb8-8146-4fa465ada9e7 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f49ade-4727-426e-bd8a-e9339e367dc5 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ea341f9-47c9-4001-a880-fca3cd85eff1 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbef7360-1157-42dd-a3cb-21f24a438be2 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1774aa77-03ac-4d4c-8900-ba189780f1f8 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36bc5106-94e5-42f6-a3e6-34802d2bd1f8 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a7409cb-dc01-470d-80a6-5a480198d315 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276c7535-095c-4dca-a699-0260a66b08b1 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ae3e89-ff6b-4c87-9a43-a978fd6e77fc CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44748b01-867b-4223-99f9-08d9c22ac5b2 CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 324916ef-3baf-4f0d-b99b-221f379b51f5 CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a1c8a7-6c8f-4f0b-8f0f-be94b461d1a7 CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09202c84-cb03-40ff-adbf-2ed638ec2b07 CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286e555c-b1c0-4a63-8df2-18410977dccf CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70e1f1c3-48ac-4428-85db-f298fb5463f3 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48048c07-4924-4dbb-962a-eb6401f02518 CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba96ece4-0bcc-4004-9d3a-0342c333c60e CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699a9bf8-ca21-4ea8-8b3d-2f6cadba472a CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b21cc05-427d-4226-bce8-610bd8980d74 CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8e50d6-2346-44bb-9908-66773d6510df CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c978e29-9f77-4a5a-8be8-dfe05af950fa CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen effb5ae6-29da-4840-b62c-05f2b84010b7 CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4295cb5-2f3d-47b5-8af1-21d31d0de9ef CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b929dd-a579-422a-a18a-848c0b419a36 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c472c08e-90a1-4799-b359-462011904c30 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869a4ab9-8f60-486b-a5f0-c8d82d14cf56 CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76e1dbd4-64d2-4e1b-b935-8a6ca7b9ba01 CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa556d5-b075-4ce8-9f4d-af4f587051a5 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen deb577ef-a1d6-4fb7-b208-e717bf54e375 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e11509f7-c493-4c31-908b-5703bf9f8269 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59329b39-c8bd-40a8-afeb-0e52c2c621a5 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b1b277-f403-4439-b5b9-070688286ee6 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8144687-60a3-4a9c-b32c-eeb843351fda CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f96e5b-b293-4509-bc51-c0e0fe94e282 CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bc0d239-6bac-475d-9b1f-70ae1903e8fd CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef83b4e1-8d51-4a1b-a742-3a45aebe1171 CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59474e92-0aee-4fba-98b0-4190c8a9d731 CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4108c468-a9aa-4e97-bf77-f2d855a6058e CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 565ca2dc-54ce-4c74-8bc5-417b75318a49 CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d2e525-3a1f-4b42-a8ce-10798880a702 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdac09da-7701-45f8-88b3-9f6aebd5f0d1 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb076125-b0d0-4e43-8b4d-45ef235cc7d7 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f3aa0cc-ec03-444a-bf40-254a240de1c5 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba07dadb-3674-4894-aae6-cbf94066771c CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1a22603-6244-4d0a-8273-c82acc865948 CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95a4c9d-55cd-4871-9246-be6c70a4c714 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7faebe8-31b7-4355-9c90-ceeb1da85158 CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b25146-8a26-455d-94c4-1e1522402016 CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08b3ade0-91ed-4073-961d-180f5fa89082 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae3448c-321a-4bf7-88aa-bbb389589310 CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79a338bf-1aec-42c3-a6d4-29e186e189c7 CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4a625e-08ea-4bac-891d-b9fff57f1b3c CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b271bc89-6b58-4556-8291-ee5b9217d833 CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f9ee9f-156c-45cd-81ee-3493e8868272 CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a2529d-17d9-4f80-9760-6340a570d2cf CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bdaf6f8-6769-44e1-bcc2-a3820fe9d504 CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28719eab-7ef8-4e71-8dd7-326767c469e9 CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4ce05e-943f-4749-9383-9e1d969c8f0a CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fb3075d-0710-4e82-8fcb-b44b2a7828a3 CLINVAR:2505287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d9b4b4-dbb7-4c3b-8c7d-9e3e2739765e CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b08f33e0-2788-4e53-af3b-0a0d3631873c CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811e93c6-5d49-4243-a8ac-c19a83bce6fd CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a55884e3-da76-4939-91ae-7ab0dd82b7f2 CLINVAR:2505295 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402a990d-9a15-4d96-a07a-7ce8320b0c00 CLINVAR:2505294 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18b28e6e-0ef8-42b5-bcf4-4dbddba4ab06 CLINVAR:2505294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f4f89c-6d1a-4cd5-9567-944ba9a33d71 CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae6b7db8-b8cb-4218-bae6-973340af97d9 CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb1292f-e4f4-4460-990a-93a5e5e0bdfb CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 328f468f-c8fc-4080-9d3d-b75d92bccee4 CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d774f443-51e5-415a-8a99-7ed1ab0b5b25 CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c228b3e-b6b8-44e8-b348-0963f91c5ee8 CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8673ac-5ea7-4af0-b770-4766bf28f866 CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 497182fd-4ad4-4e6f-97df-d7f5fa3f4df6 CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05b916b6-63f2-40d9-8c32-a6a28ac8f2c4 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c793c555-1dd4-43f2-b1d3-6976d7afe7bb CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348dfd4e-3158-44bb-98cb-aa751ab60f2f CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d687dba-2557-47c1-8cbf-0a699ab1ef38 CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7079637a-041b-4946-a1a6-539f789b722a CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b030e08-a866-4596-94e4-11ec5fa1482c CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160fe45f-ced3-4da9-a88b-b2ed3d2c769b CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5fbdc69-f4e5-4671-8928-669ce6a79746 CLINVAR:2506413 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba30065-cd60-4c51-ab0a-a0aa2f5a232b CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a960b524-bc12-43f4-b931-9a11c193489e CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8388f2-7087-4f31-95c8-16a5ea7b968b CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16e79605-c158-4a16-be58-35358af88972 CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28828dad-8533-49d6-957d-a26cb3099f5a CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61a1ac5e-7463-4894-a39b-fd476f8c3803 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c169170d-4c27-4bb0-a3be-3489467d6fa6 CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd48473-bb64-421c-be14-4a8eabe47eac CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e851456f-1d85-4ab8-94f3-01048ef19599 CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 997c8988-1245-4312-854b-b6c864c57f99 CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b8e66a-ab89-416a-a72f-db6023a2d773 CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7661c56d-1bb1-42e4-8c2d-7871cb7aba9a CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38244a90-8e0a-47b7-ba97-3a3c72abd207 CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4da23a94-7ae0-4abc-9c5f-5dfd8ba920af CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda1702a-bb60-43b3-9db5-5d5fc5e3bcd6 CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ff837a4-5ad5-4ab4-8e73-4bf2391b1594 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acb41be-648f-4c9b-84a2-ece0706819c6 CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3b16681-edd9-4e0c-8f86-9355730a66b9 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d888a6d-6a54-4dd0-b736-1caeb808bbfa CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26fe6d0c-c775-4038-8437-8fa11ae12fcb CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb3c82-4a16-46f5-abab-781f6bf11a21 CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 119057c7-fd09-4fd3-9de2-55848f313841 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b9e0d1-bf59-4d7b-a662-d751530948a2 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9d01596-0dc6-4361-8839-271a07dbf777 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60dfb9a4-bdd3-4db8-aa0c-1fef0c6cfc1b CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c85908b-c147-4454-8b4e-ee775e9393f4 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bdad46b-aa1f-45b1-93c9-c3267b752a32 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebe7d0dd-90af-4e22-9493-eecbbc806335 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c95e60-01da-4715-bb58-5d2551857b98 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7aa2c92-21ef-442a-b69e-aa2e4addc27e CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74c618d-f43e-4a02-be76-a0285ca80358 CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50e84129-9ce3-4b00-946a-a5d85bbb1ab4 CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac3abcf-3a97-4555-8f49-5bf114c6256a CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9390b816-6975-412d-923c-9e7c14f1ed50 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c13b3e1-a266-4089-b186-7fa169d39412 CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb1eab2d-2a23-4071-88e1-40ea1103e4e1 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9e42ee-2bb1-4eb9-acc0-6e51e456e832 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 623a1a1f-5120-4ffd-83ea-dfe42ec1849d CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd723557-6c8f-4329-a8d0-f5e21d76e9d1 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d69747a3-9d41-45cf-ac23-56ab9ffb47e1 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db02122a-21dd-4e28-9f5b-2cecc5278b97 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9c6f897-24b3-4c43-a680-17cf4f7608d5 CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb124bc-82eb-40a1-a94b-bb379fe02311 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce29f49b-90d8-451a-b2ef-c6df95fa10da CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87532ea8-e4c8-4d35-8c36-412840b5147d CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1804bd5-1e24-4eb1-b608-aa2c92ac14e6 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e399b62-c7da-40b7-81e7-0a56aeac82d4 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12302cb2-cd10-46d9-bc25-09535faba637 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1b2d03-1ff0-4d63-aa9d-0572c46828f6 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419c3574-a868-4c3b-858e-a1a83f524bdf CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5b6064-c754-46fc-8048-4bcf1be3e827 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce532906-43f5-4dd3-bea1-f55a7022076a CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0c01a9-8744-4dc9-bce0-1e4ee58519c9 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48e96a72-ba8b-409a-a989-09900c5689b3 CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f67fb33-b42d-423f-9259-eea243dc280b CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb6d161b-a102-4f3e-9452-8c394f28f157 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ad910c-e188-4bc6-85bb-049093939c9e CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72eb6432-ec5c-408d-a170-504361975ab5 CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d14dbd2-d1c6-4ed6-9a56-e414fcf5e8e2 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fb263cd-c32f-4c2c-bb8f-fab577b26aa2 CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bf56c7-a4ca-4c1a-816e-993cdd00c059 CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b718ad96-f285-4764-b792-00e759d8f1b9 CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50eb17c-5d94-4108-9169-1e1f5886a9f4 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b665460c-2a45-45c8-b247-de1ff4dbfdc8 CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79bd388-3aa6-4b40-8a8e-f23a78f29106 CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd7eaafb-db99-40f1-a987-9737a34eeac7 CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef57e029-a0fc-4a63-98fa-9f1f0b7cfa0a CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4551e9f2-787d-49d0-af52-50e77aecf618 CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bff69d0-657f-4ecc-9615-5884c0f2a321 CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19b93da8-f0bc-4390-9f10-32f63f683524 CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bb585b-3008-4050-9fbe-b293b9e270c0 CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f5bbfc5-5fbd-41df-8329-c5c18e3663df CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d4c6e7-b510-4bc4-bdd9-02bfc2eeb575 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73989053-a6e1-4002-bf37-2be4fa9e01ec CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5825aa-ca65-45eb-ab97-1d57c449b7b8 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bdadf75-7ba0-411c-9d87-65b69d090cda CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e56d85f-01c9-47ec-8f2b-6009d4eecab4 CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcf24839-b213-4012-a0c8-f74b366e3eba CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a783db6-c678-4e20-98e0-c5f7ae2b7974 CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dcf84c2-373f-4fd3-8da7-ec58e7edce1d CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2434ac8a-75be-4121-88bc-c0a525b4d93b CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a868512-779e-4f57-8060-4a62cb47dfa4 CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f57def7-af64-431c-8e69-b01ba583b045 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e5c8202-d51b-48e7-8eca-fc80b5cbc5e7 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2941d73-a0ed-4f13-8380-a1d5e86ae989 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a52b3192-c4fd-4883-ad8a-169ed1b5f833 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd8ea41-2e1c-4602-babb-c02f1309e501 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66f22b79-6c08-4258-932d-8763f7d988e3 CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57de70ac-63a8-4537-b47c-54a20d44ee55 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36306bab-b041-46c5-b590-c3e237a43ac0 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0404961-697c-4cd5-851a-3964221076ed CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f88109cc-8249-49da-bd68-4cc300efd1f1 CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482a4f67-737a-4f48-9c61-ece5fe33ffde CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dbcd7e0-aadb-4573-9ae1-adf6be28ecaa CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525cc6a2-bc2d-4f86-ad88-e3d7e86c8cb3 CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 534fdd44-4f38-459e-a5fe-bb4bb4990501 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71481bf7-92bb-4c9f-824a-8244ea3114da CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f198015-e664-4ab4-9580-079be1fe03f7 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d4c5e4-84da-4d81-8f4c-875cc846f06d CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7c008a2-c008-4119-88ea-48d4039db745 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d390b02b-6691-4100-953d-8f2223bfca84 CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4431a727-e804-4500-a8ce-5fec884cf7c2 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b60456-8cf9-4bbc-b863-be3349943786 CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f82d5f6e-3c3f-4cea-9375-8c1ab71ed5b7 CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3260a647-e4dd-4fac-a803-44d85447bdaf CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a0db9cb-c595-4ff0-8c3e-c6ff3cc31694 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897248c9-1d01-4208-a473-ea83a0f6e91c CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d49a5bb-20c5-44a1-9b14-282db7eddaf5 CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a111b5-47ef-47f6-95b0-65bfa7ed5bd0 CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aeb05c06-82d3-452d-8c81-43f791ac35ed CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783520e5-630f-4e53-96de-3689b209e6f3 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5696747f-b9f2-48ad-b39f-c29d797d82ab CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4511aa-4800-46ab-9fec-977be30c2068 CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dceb51c4-41be-4063-9ebe-c1f99e5c3833 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa692ab7-1409-4f84-8900-1dbc1e218ca3 CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21b55ec1-9b3c-4cb5-a804-cb0f97ec580f CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7393ef0e-acf3-44dd-8200-fa9acbaaa06c CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46fd9dd7-458c-4464-ba75-c2e715785a69 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d964c595-bf72-46b8-9341-7368fc908ec2 CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fe3db0e-88d3-4b7f-aa02-64739c6303d4 CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea29ac02-3dba-4341-b1ce-f098be3e093c CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a8c30fa-2732-4900-ae03-ec214b1afd55 CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffc2a50-3c49-4ee3-9f56-89249fdabeb6 CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7a6d0e4-1a63-4be2-82ba-6ebc0eeb5895 CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbe3fd3-6b35-440c-b63b-d6c4103699ce CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9359941-a79e-4ac6-a695-9bf4ea8f41d4 CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5f83bd-a3a0-4c22-b946-a3df36aa631b CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe0a6aa7-43dd-4713-9ce1-73878f556fa9 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18417762-937a-4080-8b94-f4a8d0870d90 CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef7af173-0516-4222-bac9-406d3bf81756 CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35967a3-8cde-44a5-8738-51c8cfcf09d0 CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f6c8f93-c12c-44af-a8db-96a065c69310 CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fcd78eb-c3f0-469b-8b04-2c0da772d024 CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c2d9af3-b8bb-4490-abcd-dd809ccbd11b CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb53e5b7-a58f-4faa-bf1e-4ba0f628108d CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c528687-8d95-40eb-ac33-5ead12ddc25b CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cfd09b-9a25-4dff-b164-0d964b3f916b CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b050f9a3-27fe-442f-8a84-db6b4e6b57bd CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a871d322-b0e9-4198-93a9-e00cbd7efcd0 CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c223d168-e81d-4263-8c9a-7e3a00c39769 CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced8f5fa-d84c-426f-b98f-b89e4a4322d3 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d7d22c5-0f71-4a71-85f3-5d8c74c6c766 CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77514223-d057-41f9-8b9e-5b142089abad CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3b23108-f53f-45cd-8d94-7fe1ce8c7ced CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea2ee94-09e5-4e8c-afb3-a34677e267bc CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5881eb8-29a2-4e64-96ab-8d7bd901345d CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4261c67-3f71-4bb5-ae6c-2f87eb540c1d CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c886610c-ec7f-4da5-880d-780a41a2db8e CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a044589c-e75e-4c74-9357-647eb9257bf3 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f8a4449-1908-4971-ac01-55d098f6ad1d CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ac6a50-e585-4ed9-8d1b-bb42f08be9c7 CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbd75c91-f273-40f0-a5c0-c026724917d3 CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ff7af3-d348-4992-a990-9cb058e98cb6 CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 080ed293-dd5e-4b29-adf9-2a6659c8e41a CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7655bf87-288c-4a79-992d-321eba14d3ec CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3823812f-6065-4fe4-8f1f-382f0b4d396f CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3c4ed2-7a62-42eb-b29e-bbc5fee8d80e CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db27b6c0-497d-4f60-b6c1-9e9a8da9dc8a CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb6cbae-8be2-4efe-aec5-98e88e2388c8 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 365f2643-83d4-430b-9ece-49547481d2d1 CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8d59c6-b352-4085-9f92-3a6f11946ddd CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4b35f1e-5846-43f7-aef9-d7f05ef1bf57 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba0c92f-f19d-4ca5-be1d-f13b8785fa76 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b18b8cda-8606-463e-99e4-b5055cd24dbb CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f018e19-9738-4e58-ad5f-3bc101b1f40b CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 929d83cb-a75c-42fc-8f8d-e31b2be51ffb CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c319e1-daf5-4016-bbc5-812b6090e1a1 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1d6befc-7103-4a84-9648-6c43f24be162 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab02356-48a3-4b44-bc33-681fafc57b40 CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad68fa4c-296c-443b-928d-8ad37a03e9ff CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d813d7c-9073-4978-9c4a-b20f44721041 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb09eb4c-0d47-45e9-9470-45f26a995c0a CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764283b6-b473-41cd-9d02-0488f82aae25 CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e74ff198-1041-440d-8092-68af4ceb4d4f CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817f8c6b-8e57-4676-aece-e1d6b8fcd879 CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8097fa63-cbf7-4254-a875-c98ed5c01794 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8a7970-60e7-4061-835a-1967065cb321 CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59b6b341-fb81-41ea-9f2d-8a03e3c3bf21 CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafa562f-4fcf-4fb4-9c43-681d518dc3de CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67e739f5-f956-40c5-a160-949c4f863d8e CLINVAR:2570631 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a4af33-35ad-4fc5-8cb8-c6520e4f0d4b CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb6c8839-2a42-4b27-8e6f-f8199f59d5b8 CLINVAR:2570632 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87071156-e9c5-496e-8f96-f46e4ca9bdaf CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf08f03b-b6fd-494a-a98b-12a57b3c509c CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cceeb425-452e-4656-9528-90f8080db509 CLINVAR:2570620 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a75c479c-1585-4cc9-bc99-4fb574d5cd18 CLINVAR:2570620 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb778f4b-1607-4bfb-b134-74930dc589d6 CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df043755-5119-48c3-9447-da7926517806 CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30efc2fd-26a2-4bb6-b990-91af189578cd CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a8ef16b-0520-4dc3-aa5a-fd1ff9229629 CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160ff33d-7274-4091-bb5d-73db55766a53 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 212594a6-2779-4659-9930-76c5f9dca9e7 CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9e3e07-5cd3-4670-b52d-bf2b20c2dc52 CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cd83c82-376c-4923-9a4e-d43ed6950ebf CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a492dd9-e34c-49c7-b8eb-c87d86dbc5f6 CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dcb13cd-013f-4a35-8cc8-69d7fe0ace1a CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44342934-6fbd-46dc-8d7f-3766e11dfa0e CLINVAR:2570625 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a32941b2-4270-4552-a537-67baaacd722c CLINVAR:2570625 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa2fb91-201a-4a82-ad95-a558783dff2d CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efb73794-2560-48de-b78e-9222238434af CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70212cfe-e356-43a8-9317-4529e4d84776 CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b082de5f-4373-4f07-a225-bca29b3f94a4 CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b409b897-8d17-47ce-8f49-f28fbab56b3a CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 030b6ad5-c9c7-46b9-87c9-dc3fb801cc22 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9252d7f1-33de-435d-9349-1d522f418a13 CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a565387-244d-474b-8deb-3bc1c09ec764 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576f1c9d-ac3c-40c9-bfa9-d826d35c706a CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfbc9f1c-3ed6-45ea-b130-ad336422b2e7 CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934af8bb-9f78-4cf4-aca0-75a2466b0c6d CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2c9222e-c924-46d7-81b5-2cf7d317278e CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9087f18e-c989-401d-8c18-7842765aad91 CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42f496f2-fda3-4b8b-ad24-c9124054341b CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf9b741-56f4-4a1d-a50c-1765ede5e80d CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4077bc48-0167-4dc7-b326-53815d16e46a CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef5ca35-359b-4c42-9f9a-423711f361ba CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c925cf8-80a4-4e5c-9546-72d87e630198 CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52701a3-7434-47d7-b8f1-07475c9c2e44 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0a55832-85be-4416-a468-c7ef1079547f CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c66e079-4c54-4fdc-8e9b-e812009990ba CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5caddc9b-3149-40dd-88e8-59baa953f45b CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174175b1-9e4f-4ce9-a4e7-e471ac934339 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 691cf50d-cec5-4bfd-93a3-c8d7fffaf795 CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22122744-1fb1-47a6-ab6b-7c5c16cc9382 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc98035d-803d-4011-aca0-9443ef1a8a75 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba98845-66a0-43ad-977d-455076489b47 CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eed5dbea-1741-47a1-9c90-753fcb39fff9 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f30e7f1-8b88-4e40-9034-3abef6a8b0fa CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 341c2768-2d91-4eec-9e87-7babc4429483 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9b8839-f5ec-4f9d-ba28-99265fb863da CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37252c40-879e-48f7-8713-7bcfe2af3853 CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce9de8a-fe96-417e-b8dc-ca506e23ada5 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1859d08-c17e-4db4-9cd4-b35ca02eac82 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69109ecd-da82-4d9c-adc4-b21e4af2e887 CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80ab29dc-cf7f-4b94-94aa-2bc58b159aa1 CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3274624-c6d1-44e9-b97f-51843b282701 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd209481-5e33-4b98-82df-b59c69d62cde CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfb4d4b-8e86-4185-bae8-d97417ba1cd4 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 596e65d6-82cb-4c2a-890c-9d21f656ee14 CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbaa1bd-7799-46f1-91eb-31034d835874 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bf0a40b-708d-43c6-82f9-71b1b40921ec CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92a5cea-8096-4a7c-8d97-038641878342 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 514286fc-5712-4b07-8653-36627db973c8 CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543084e6-3c6e-45bb-8edc-f7ed077c2d4c CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a98468d-d1d0-4eda-a105-3f7af21fc807 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af57bcae-2514-46c8-9613-be4a19e6b55e CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c183e0be-7fa5-4bfc-a9c3-fe086fd8ace2 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cde76fd-aac7-46ff-b6b7-42f6bff42ad1 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e916c1f-b2a4-43e8-ad22-2cbd1c93bcb8 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256e08b6-3ed8-4b76-aa82-1785bab16d15 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f969ad5-bf93-4b9f-affa-3eb7ff590c17 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f9c108-cc97-45a7-aa2e-49cc3fc318d8 CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb01dca5-0c13-437b-b888-898f3ff06264 CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d468f02-87bc-4689-9e69-dd3a8515e481 CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f9c2250-bdbf-4058-8b64-5bf48255504c CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d410de-ea03-425c-be7f-267eb6833888 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3488ac89-c8d4-43bd-b843-775bfb89bc9d CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79959db8-978d-460d-8146-81d4642871ed CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4cd4c25-ae19-4490-97cb-21e55143d5a0 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b926d96f-9e10-4b5a-8590-a850cdc0e77e CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cf3ae88-e18e-4b61-8d0c-26a2eecbddfc CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76af904c-8410-4378-8880-6c0662cc8c4d CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf748e94-e4dc-4463-97a6-2de67f9bc5ad CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0085844b-4455-4360-bda8-983dac4930f9 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f0bb2da-9efe-415a-af33-3f057ca43956 CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1851268-e38d-4cd9-9ca0-0022a2e519c5 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc31b639-40bd-4ba1-8067-f13d935f1646 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad8137d-1a9d-4b1f-91d4-fba25274bbc5 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256a48a4-6d73-47b3-9159-af1c3de3f555 CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb29ccc-feb6-4491-bf54-ccc16fec6c5a CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9ad9c83-7996-490f-ba5d-66a20082ce5c CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b81c23-6677-44b0-971e-24cd349fde84 CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f1f5d4-4bdb-4ad0-a5ef-96fdd18b3a83 CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede06f5f-82c1-417e-b097-4b73ce636042 CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c69d6544-0514-499e-a3e9-734b2fb6df38 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9dd174-9ffb-4817-909d-441ba1421738 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a41567-bb44-49d9-aac4-b7a210d3631a CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac51de3-41f5-47ad-9645-daa3bd91c24e CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 174470ce-d031-4fb7-a2b6-473635d6cc3c CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3775a5-d6c3-4e7e-8206-1103d15f59e8 CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a23eccb-1ddf-4a88-97e7-35b5ddc55091 CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd93a4c-e7b2-4fab-a374-d96d3294a336 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 395b033a-3dd3-4b04-9110-4e1301a88885 CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54a3104a-1c52-48b7-8d4a-3f13647506f5 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 866c337c-ca24-4ef8-8d43-7358b0239f14 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690fd1aa-5941-4d72-aeaa-1de2c10333d8 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206869e1-a71c-4d1e-b3a5-95c5abd3863d CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417524dc-adb4-4ad4-b490-2cbcb19a7fe1 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06819cc3-5c2b-4bb2-8e62-77a66738be4d CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce7493f4-1b5e-4a9c-8076-71db91b507d1 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6287804a-5ed5-4967-8685-a0e399f0d4ca CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ea7ecc-fe9b-4586-9aa4-f93eb60292b1 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f091444-d8d6-4d4d-8ebb-3fa219f1f1fa CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d870b1b-0653-46c9-9e82-ea1f79d61d4e CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d178212-6da3-4c0f-987a-f20f47e513cf CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9a61e9-abee-4e9b-ae7c-6104b3ca087c CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b22708b-efa0-48a3-8b78-668a2bd4e180 CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612ad1ee-b275-404c-85d2-c1e034e7dd1b CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4cce86f-b7a9-400c-97a3-4b8f03a0a8bf CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72977c75-8c71-4731-9116-8f914cd6b3d7 CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b48b58f-ca97-4646-80c0-5e55ba47e102 CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7754d1fd-b4c2-4d5c-9041-334f36ef2f64 CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e1a4455-4916-4864-909e-d309eaa898a7 CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fa1e4e-2bd6-4973-9206-6935a33601ca CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82a51bae-9f39-4cac-864f-ca3f35ca23db CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17e78ce-89ee-42f4-ab40-b35b8dc14cc1 CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2576f19-061f-426e-85de-8e051bc6332a CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89db72ae-1920-4f2a-8cd0-2be2dfa24f59 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05eacfd1-1dd3-4e16-af66-e40f4ea940ec CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a164431-0b8b-47d6-94d4-d885ef5c8505 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0302bdf6-3bc5-461c-bce0-ba48dffc8e09 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c324884f-7706-4368-81f2-2155d7418e0a CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86926f3a-627a-42c8-8633-b457dc0b4699 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afced8c4-799b-4918-b658-eb297387e75e CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36c769db-b3e1-46b9-9e1d-205484887cd9 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432d2830-1737-4d72-8cca-cb78d731906e CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abbd091f-d15f-485b-b01f-0a64d8483a76 CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b5e956-e337-49ab-aa2a-f57284b3c8a3 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f81b67f7-f6e0-4c9a-b402-25ef3464785e CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad25c4ad-2ef7-47e2-a107-929538f2b67d CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b3d33f8-1e7a-49cb-aaf7-ef70982ee31a CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31839776-24a2-4ac4-af69-9f07a95d5f0f CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 827f6764-9c82-4c41-ac57-f3e4a5dfd055 CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df74c50-c30d-488d-9046-191bd6b45e4e CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48efd722-1848-4312-abbf-570043aa5f02 CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddec3dd-420b-4df6-8046-957ac7335448 CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6422b4f-b23e-4a73-b5c8-1731e4072d49 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59996e8-5d86-4106-9d3d-9001f9d4af1d CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 081711e7-86c5-45f3-94b9-9638f4a72a6e CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d70b23-1da4-4de8-b5e4-16861f1ebcfb CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a53bdc3a-ec36-429c-a09b-c108619b2d1e CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b99467-baf8-4c80-b54a-539d73b359a0 CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c15d633b-a627-4f51-b0cc-a01c530b4ce0 CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135ea161-a96d-4146-9d7b-0a7f723df73f CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eaf34fd-da91-4847-b73f-4888de471e9b CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8bc58c9-8bcb-4720-bcf3-2d49d5832468 CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b9bdfc-9aa4-4204-8be1-f45355146e47 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfb53fa-0208-4b3a-9600-50892b5064c5 CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a68fbb-6edb-48ba-9579-a97f7e6b9883 CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944c452d-2055-4c0e-93d1-ae371c05f5c9 CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca0e2972-5001-4ab2-8cb4-fe0e760add70 CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8834b25a-4af7-490c-a5d2-ac76047f85d9 CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f8868cc-d17a-4b2b-92ab-5afe147b833c CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987bcfbe-36c8-4add-9023-97b530557b5c CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fd7a63f-92c3-4e86-869d-a12910bff9eb CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41807944-e8f7-406a-866e-539836fe0cbc CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d73593f-a333-437c-9f94-4e500d59d46c CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83f95ea-442e-4b5f-a0d2-54088ff9525b CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 546092db-f679-4e90-9e71-30898e74def0 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ceb38d-d8e5-4efa-825b-ac6c8a32c7c7 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0acbb658-78bd-401f-a193-57e6ec2941ae CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b40b15-4660-4b35-a909-0a228ab9c7ea CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6aab897f-2259-4881-a5fd-9ce2bbe79948 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c3ac70-d1cb-4401-86db-1d3489399283 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a89ef9a-0a06-48f1-81da-9e6e52e68ee2 CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47d0024-d19a-4275-9e50-74b6e651f759 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d407131-b47d-4fd8-ae5c-69ea503b6a20 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50834c8-cfc6-4e96-aff1-b51742fa2e2d CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98d9b644-e5bb-4a3d-8d7e-5398483b7009 CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e887adf-bed5-4dbd-8677-9ee885e40c3b CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae3d2420-6702-4e9d-bb1e-ac510bdd5a2f CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2551fb5f-ffc8-4f97-8601-3b7c72eb96dc CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7e57c3a-a3b8-4287-b762-d3788a499b88 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6126bc76-102c-4d91-9236-6b6ec9043191 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 025fd37a-5869-45d0-b9c0-174ac2f43729 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcf9b9c-cb15-4be6-a226-a5e5ea234c0b CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9c4bb03-e1b8-47c9-9fef-33d195001041 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e698d7-c34b-4808-9f6b-7be63f5fda3c CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd4dd403-8480-4188-b71c-3c4ef7b5b546 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121802b6-8e08-4678-b6ae-e5fbd60f9c9b CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bfcab19-9fb7-48df-89c0-36e1e4578e63 CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378eb4f8-db8d-40e2-bc85-c60b38e4f987 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c24b6199-643a-4045-ba8e-328026b4503b CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1293fda0-7e50-48bc-89ee-b0ed68fd3440 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7638526a-562f-4bd1-b22a-693630e241e5 CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aad90e0-d785-471c-8d26-63287f8625fd CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8105c214-b34e-44ec-a18c-7562f8a7b5ab CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2079f527-3255-446b-b6d7-0701f9f86b69 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54e20d66-1258-4e39-9b11-c52fa56eed9e CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541fca60-0e6b-42ad-9ae3-ac251e12c120 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df614b40-cd7f-4617-97b8-5b97e80b635a CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f2649c-6190-40e6-8368-b5d8d2bf7b55 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8ce0a6f-53ac-40a3-9cb3-641a12f5a5c9 CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76d609a-83e1-4560-a52a-1ff938f70ff6 CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90263adf-1cbd-4009-8e42-1499093e953d CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea765755-f4b2-45ea-8c08-6268bd77758a CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d9e845b-4024-4641-af4e-5fce4fb252a3 CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30843f16-19c3-4c03-8a95-9582b8cf17b2 CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb8cfd30-a5ea-4672-8598-f2b019845b7f CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60043006-b500-4f1e-a445-60e6cd389691 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c509912-4858-4e01-b3d6-973d6d7eec83 CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c05777d-f09d-4652-983a-4916d31b6aa4 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cbd4b56-f435-4f66-bb42-90e1122381fd CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7571b408-03fe-4693-acb6-f7ec1782b340 CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccc2e927-e48f-4803-aef1-b6d6e458eeb9 CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8604aebb-f8ef-4276-893a-d9f3fafbb066 CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee458fd8-2bf1-4ec5-a0fb-6e753d78412b CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f55882e-c767-4043-a865-3860f8d61b33 CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e271ed-2afe-4df1-81f9-fa65459c9edd CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4d76cd-80db-48df-9423-8a0bf8702260 CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11d680b8-7abc-4ac4-afd5-08b2cf076a48 CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87bcaa2a-40d5-48fb-ad32-88c7a7e6a190 CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da3ecde1-cbaa-4db9-a5f3-719f104b89f3 CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc80384-9c7b-43bd-a9fe-5a9757244ad9 CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32e4ac39-a306-4656-b10f-f5825c5d589b CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6dfaad-e2d4-4aec-bca4-a96186dc9fc3 CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ab03551-64d6-43d4-8cd3-f5a1dee5c00e CLINVAR:2575101 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1088e783-5b36-460b-b268-f26ba747405a CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7334e0ac-ebe6-4df8-88ad-0c62ec68612f CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85bcf148-9d0c-4729-af6d-98304be2a4b2 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1591aed1-4c74-459f-9345-e88f58874882 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125cb1ea-bf99-46f9-9fcf-ef3e54970f63 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4041860-0404-446e-874b-47b2ce0d06dc CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf141f4-a49f-4716-934c-7062707942ed CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ab5a883-2bd7-4248-843b-68f68565ac27 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad81a1c-4283-4e98-9146-533e5ea2709b CLINVAR:875954 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e511910-c60e-4a37-b211-69e97a127b98 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca181dd-8e73-422a-a2d9-70b729864ffe CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4958371-3ba7-4a02-a475-177224973f13 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7b8dd0-28ca-46a3-9755-47f4a5e757d2 CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35b0ec10-856a-4fa4-ae8f-eb477006f379 CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23402324-42d2-4598-80e7-804b3de74bab CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc7e13e9-d053-4439-8135-788761f83b6d CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9146dedc-e5cf-481c-b478-f2e2f195f80d CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06135e64-5a71-48c2-8be7-c421bb9b07a6 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7f52d9-6bc4-40e1-a197-b662cca8f1b1 CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d513d369-4c06-4add-ab0e-e889622df168 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8d9d33-fa61-4019-83bc-2c952ba38fdc CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc9917d0-f347-4fc5-be89-67eeae84f54e CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcbaa44-c2da-4a8d-8f63-76ef9df8eaf1 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60fae917-4c36-4c59-b84b-8c863e7eeb86 CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5cbab3f-19b0-4dc4-b1c2-2bce27dfccb8 CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 491b723f-3a3c-456c-9a28-96a33926d507 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b671e6c-a337-46a1-be7c-fa3a43c5b394 CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25332f85-b98d-4e8b-b9c5-bce993b84477 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3cf8b7-3c71-4070-a4bb-c62906553503 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 944c4e76-1ed0-4c99-8eac-da807c1f45ad CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4d3ad8-b3b3-4bab-9c7d-71379e2b133d CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f95bc5ec-3ccf-45e3-939c-54d309c6ae15 CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d984459b-d2c5-4715-bf4a-b6f7fa23cc61 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65555dd6-6b1d-4eeb-9ef0-6cc9538086eb CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d00e1c-884b-4db8-bd6d-de429536eba1 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e909c3f0-0044-4e0a-88e3-634b09ca6ab8 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262bcec0-ad67-4dee-85cf-b64326aa7b76 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0effbfba-a0b8-45c7-915c-3dd3ab68334e CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637b32c1-d178-42f2-bbaf-577ed127bf21 CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9994436d-1a5c-4807-b69a-9d86e675fbaf CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee2662e-d394-4bde-936e-24986ccc1557 CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fdc53e1-7896-449b-b8ed-b561fc73b193 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdce74d-4501-4364-8801-857a74cef34d CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03f48cc8-d6ef-47f3-9390-0a6bde8b8db9 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2342ea0f-bbe6-45c2-a697-9170326cf9f2 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61b90e4b-edae-41c0-9d76-cdae1fd96cde CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ca17ed-1f38-4bb2-b22f-ba7bbc6cac26 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f12dbd72-6d30-4c01-afe8-3f9ee721f915 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3779da83-4ccb-49f6-bc08-d0363a7fcae0 CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3be6fa94-0ab8-4b16-b205-48ce5de3482f CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2623394-1724-40d2-9a00-00e660f5f81e CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60dc8364-7b41-4274-945e-235cad43b49b CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3dda0a-dfb9-4cea-b4cf-5fe55d26f0fd CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6f79e9d-1092-4d01-a2c1-fd34e8b4828b CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9cb54d-6e1d-452e-86c2-c8a2e3493869 CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23ce929b-036e-49eb-81e6-f8795fb96fb4 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa54bc6-8274-47dd-9a4b-f9ad403d7538 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3440e1c-da48-4382-8125-135430330d57 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766c29f6-54f5-4839-a7ff-5458a4559717 CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad20fb46-b945-4ac2-ade7-3e7701b6fa72 CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07295832-06e0-471a-8966-dfc8b7d7a3d1 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97007f40-3776-45e7-a278-ab28ff192f5c CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24f6865-2c3c-4eb3-9ba3-0348cae02cb7 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0d02d51-0a1c-4221-92ba-6e2f489a4432 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cccc09-4a7f-4a9c-b1c2-b5229e2f2aeb CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 011c7194-556e-445d-847e-94616b17aa9a CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69535d7f-946b-49d0-8504-91910d11d064 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c86c4dfe-499d-408e-882c-3104e7078868 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6317879-b3d5-4b76-abf5-c37cd28bec27 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd29ce79-d206-48c1-911e-2c578979242b CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a3906c-051f-41ca-a6cc-83e0b1d2e88c CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff92fdce-50ff-4bd9-bc9c-9ca03ba8cb20 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92602405-d0f9-49b9-a1e4-2ac7ce825803 CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cffb9ca-adb2-4238-8580-5c4d49870aa4 CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0c6306-5441-40ae-8db5-78bd4dde3260 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a782ec05-92b1-485e-bd67-7f560c5147f0 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a458f4b-7ecf-4907-b982-f184f1d50160 CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 183b24e7-2162-4316-82fa-5d1760ff1ea1 CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b28068-741f-4e80-a274-1ba8e70300a1 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fd7952e-528a-456d-81ee-10a8241f7490 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e0bab3-19bb-4207-9794-1a217edfae34 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ce881c6-439b-41ae-afdd-ee5daed06604 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0682fd75-e213-4e2e-8a97-6c8a0cd83027 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28936e4d-2f76-477e-bdff-e36cb6595f97 CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91976f3-7c32-4ae1-89e8-6a00fa24207d CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d871461c-e6a0-40e0-9b8c-2c3135022075 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12abc385-9e5e-4559-84d5-0f25f61ac846 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81415a8d-6d6b-4b57-a39a-5239a6e7aadd CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8287031-3b04-43d3-97bc-29fd0ba07f0c CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 062d3883-2d20-4d53-8623-091a1a50d95a CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256f9296-6d50-4b56-9902-ead0f55c9e35 CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f25db7d-b376-4e52-a526-304f7d85eb59 CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b256e9a0-0f6f-4dbb-9562-3ad20dd6f0a6 CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4695e05b-2c1c-4e72-882d-a1da1e29b9c3 CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c60c20b-f4fd-4957-a3cf-57821e75e503 CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6a61643-d950-43a7-8c11-73064ce5a032 CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bf33b7-3bf3-429d-8ad9-18fba4400d6d CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f2ee82a-5c40-4ace-9fc1-094879d3bb1b CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b798c7-cc38-4e47-bf03-bca170e45488 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 048f912f-cbee-4107-a4cf-912e8a94f02c CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2692003-362e-4be3-93f5-60a8ce8fc38c CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ec17cbe-6410-402d-bb33-3dfa15461cda CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e99ade-7934-4993-9f6f-48350446ff25 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b41422c-cf89-4965-866b-4298264207fb CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abae71cf-c22b-4943-874c-7419449ca1b7 CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3518640-88fe-4aaf-9f32-6edd1379736a CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982cc99e-a9c3-4cf8-a0ce-d4a0305f5c6e CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c6b016-82b0-4e6a-9e34-9ed41b90dd91 CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b132862a-803f-4c1f-9f24-bdc63b7335c3 CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a24dee3-3295-4a21-bfa5-0c1e44b58d78 CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6f7277-a68d-4fe8-823b-9ea6b03574b7 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6abc9dfe-d7f9-4d5b-8033-e251cd2c43ea CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5b2d09-4829-4c58-ab86-bc066e75a4c1 CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb465d1e-3152-4f3d-87fd-2fa3ad470a22 CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e8a151-6f95-43fb-97b3-6e3d7508a635 CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55153330-bd83-44c0-bdca-ccbc384caba1 CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51219ebd-b90a-4d30-b55f-2a5e0d5260d1 CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7878fef7-09c9-4480-b033-2a44a9043e79 CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff2d132-69c3-4125-b644-7d482373cd11 CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ec76fcb-259a-46e8-a93b-2ef3d2688f2a CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00288a0c-3eb4-454e-9e7f-e9d5aba2a03b CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99859800-d806-4451-bc93-f91bf76a5c1e CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec1f243-9cd0-4ce4-aec5-751538a276f1 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72b7287e-21f0-4b0d-8f4d-c19ccc8c633b CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da7f396-2c60-46ae-aaf1-e169f78ee23e CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d42b6d58-ce32-4f68-aa3d-2b0b39768f15 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d009460b-97d2-4130-ac77-4c46a8b5c846 CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab4aef1f-abcb-4602-8af5-f483756d497c CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730d78f3-99f9-4284-ac95-ba5246717446 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 623a5bcb-8305-47af-a73b-628f36a68bab CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b277fcc0-4d57-45d9-86fc-4ab6740a10ba CAID:CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ca6da59-796a-4267-96af-bde0ddf6a3a3 CAID:CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947983f0-ab79-4346-820f-85e93773d6a5 CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89c9954a-d728-4a5d-8310-18c68ea97c6b CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4cfbd5-a315-4ee2-a026-ce1ee6b85b23 CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f6feae5-47f5-47a3-9f54-68ff4e335ced CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93197026-4e5b-44e6-937a-7a86927dd27d CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b5a6a58-02cb-4f64-92d2-b8783516d8ba CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 818d347c-9fbe-47a0-800e-3155c096a44b CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4629548-d8b6-4d0a-a038-a23833554513 CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d562e1-64f6-4601-a764-1c8a089fd064 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7c6d957-538f-473d-b986-c6d23f0500ee CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605fee77-b757-4c75-9423-1cbfbd9322cd CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a53e1e51-3ade-49b9-8fdc-7479a86ac48e CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bcf11a1-eaeb-4ef5-84de-69cee8664c6a CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39fcbd6b-e6d7-452b-95da-d0a03dc77516 CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f73968-d2a6-450e-8b2d-9a68af17086d CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bec7802-abf1-4b79-b164-be368fd3289f CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e605c380-2e9d-47ab-93bb-933f40180070 CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e9dab82-c350-4322-8366-e5e48eeaf2a7 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8fd837-c731-4c8e-88d3-58716bd1c7e5 CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54f3ef61-8cd1-4125-bd6e-a38e2f918152 CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027a1756-9eef-40a7-90ea-291a0c35a5be CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24369f24-bea6-4259-9691-a4b384013124 CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d362f3ec-aec5-4e35-9de2-1c13ea50734c CLINVAR:2581084 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91fb9bac-a2d3-4064-8480-a436e12e57f5 CLINVAR:2581084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c233405-c1a4-431f-a17a-1c05844b560f CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f94ac7a-7a75-4ed0-be9f-08143ac26717 CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89052bc7-c9f6-4d48-9dd4-ab8882fbb11d CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a9ae657-0d3c-42d7-940d-b491a23cb47a CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadcac8f-defd-4051-8170-d0f377ec2c1b CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80fb7cef-8f64-4457-9169-e00853abea5d CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec30d1f-ce12-45de-a953-6ad7be0ebb85 CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9675b9e9-58db-4fd4-8fcf-996dc87e68da CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a2526e-14f9-40ab-a73a-f5bfa2083414 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab1c8d8e-e5df-4166-b392-e0eee926be10 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c98c936-6a29-4be5-bca8-fae010455ce1 CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7af2c9b8-944f-4bac-85af-5e24f36f810e CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938929b2-5d98-4dbc-ad9b-2daedf195e8d CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97fffb91-ba1e-4c9b-acc9-4a5e3e5be1bf CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a95204f-8cd4-4aa9-a89b-c1052f7f9242 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4219b180-57e0-4e7c-be44-55af9fec4482 CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146867c5-07eb-4f04-88ea-c78cfe118d70 CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f82bfd13-b8e9-4ebb-9b23-bb879330a8ed CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c64b59-5201-4db7-a89a-d82e07232487 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ada1c4f-bfe1-4a9a-a6eb-471104de3264 CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31b296c-0e3c-4602-be94-440e609e94e4 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8adb5a8-26ca-49d5-8aaa-eace4d9e86b8 CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0094117b-a2a6-4065-9ef8-ad1e39147d33 CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ed2287d-cb11-406a-bd64-74bd1c77028d CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14013c91-8e0d-43b4-b5fa-0c2818832d40 CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8581318-475b-4082-b28b-66dddbf7564c CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9499b4-0cf1-4166-86ac-f6b22606a321 CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11f0864f-6c59-468c-8699-815bea6ae5c5 CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913847e2-3fd6-4483-8ae5-252b6dc22302 CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9c3ce70-26f6-4dad-8d08-59f7b4110f7f CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148710f6-ec26-46b1-a609-601cc89463a3 CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f432a9-64d1-4755-a727-51f214b97183 CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2185eb08-86ce-4d8b-8cbd-d3e11db757ce CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44fef605-f58e-4182-9279-8806684cc3a8 CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d354e0-3a6c-4cdf-b430-bf806f6f67cc CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d45f978-0bbe-4230-b514-5bd25bf78357 CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa842d6-5a97-489b-8e3e-65ad47ce0deb CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54841926-ed79-440e-941f-e7900552270f CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7406c5-ece6-4f74-bca5-4128e7fe48b1 CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b14ae8d3-9324-4bce-9e1e-90e05ef46baf CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a9fd04-4e12-46f4-8570-81522805c8ad CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37a0c349-072c-4267-b642-bc1be6fb8105 CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932377cf-72df-4260-9a31-010e60a779b6 CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c4be473-d6c0-4672-9327-15ef3acef192 CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22468230-6770-4290-8c0e-dec8dd1ecd0c CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 752020f0-aaf6-4df6-8503-c9e238613713 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8e5df4-841c-407c-8561-bbe80c458135 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5cf95df-3634-4ea0-865e-2cec31cc4572 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56761e30-0b8f-4ca9-9f19-f861aed22f09 CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49884d84-8748-4a74-9e09-62038454ba2e CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a747abc-4b1c-424f-aeba-bcb56aa8ea31 CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b927d2e1-086e-4700-ade1-43269ade647f CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6bbd0f-ae98-4293-b771-f4f9491630a3 CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfd66218-d54b-4be0-aaf0-f83306284726 CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95267b6d-e56b-4f75-9e5f-ebec41d113fd CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa9afd7e-b45d-4ee8-a2fd-05f6c68e496e CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f1ce95-4a71-4cbd-be3d-1f343cc8b7e9 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 672441ef-6299-438d-bd10-52913d8af09d CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec17b82-351c-47c0-a731-7d67664dde12 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17b6d5d2-f001-4170-a4b3-1a82c2165e85 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9832aa8-0ce0-4215-8dd9-503f3a1e0f07 CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 673ae47a-ae12-49db-b6c0-3470b1c2aa77 CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a5d875-c091-4641-8289-f93e5441ed80 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6c2a704-594c-48da-8cb4-d61f3cc7f45f CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917f62c6-5d4d-412d-aab2-aca9b6743ec8 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a1e7c3e-9da1-46c3-af13-1145e001471c CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1802a4ac-e22f-4179-b26b-e5031871e7a1 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6db5cfb9-39cc-4193-a169-370a4c822ed1 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f892c4e-3e85-46d7-b535-7ee3a1a2475f CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd8bb43d-118a-459a-bd09-5f44fe0b1a7b CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccb75cb-fd59-4d51-86fb-1b4cce93dff5 CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d7448dd-1208-4b63-897f-9901021f338d CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210c8e00-87a7-471d-89be-bb2f599ec2b2 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e28f4023-01e9-42e8-9c3c-43ecab049753 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc853ce2-08fa-4a32-bd6b-0bc010be89e1 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e078363-3b84-4f2e-bc20-04fcc639f621 CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43355c2f-36b5-488c-93e1-06e4086ed287 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9206c24-40bc-43f7-bc60-fdb50a7a9619 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cea182-561d-4e42-b240-628ee6174886 CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f102436e-532e-4682-b97c-7e9bc7fb3cf5 CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa6c2a5-30cc-4901-a60c-1f3667ca04f5 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1fc57b-cd26-4009-9f59-82f441d520e6 CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6760e854-ddd5-46fd-b6c7-d184ed7e14a8 CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc4a45d2-b697-4616-b8e6-ae3962d49f23 CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661ed53b-6f2a-4475-bf7a-e22f7c1bf0ac CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b74e6ac5-bcd0-44c1-a5ce-c90cf2862fe1 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2f2825-2476-4166-a82a-03fee9c4a91e CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c9839f6-841f-43bb-8633-de96275befc1 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98db404-aa29-44d9-894f-8559f8e884d5 CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 945512b3-652e-4438-80fe-3ba8b0e1c8f7 CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5c86f7-e2e1-4421-a47d-de41f36008ed CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14f818c0-bdfe-4cd5-ba06-a5dce94f629e CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d1dbd3-6f7b-4712-ad68-82155beadba4 CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d8df5b7-d4c2-48ee-995f-37bd96d51bcc CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3058936-c470-4467-9785-e6419bcdc311 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49dcce46-309d-491c-933b-56037f057b54 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652478e2-e294-4098-815c-2e0e2c69f68c CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccd91fa9-8b29-4ab2-b6fa-cd3ba32fda1d CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7abde3-57ee-4471-a9ec-64c1bbeff35d CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44e6baae-d8d3-4c1b-b315-3573cdfcbedf CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc31229-a550-4ea0-844d-fdfaf0848e92 CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4744c716-756f-46eb-9e85-93acede782e0 CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0500d9d9-749f-451e-ac7a-f2d0750511f7 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad3f6da8-d6af-4ac2-a2fd-1720273e226a CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b41354-2e4d-491b-b253-887bd906ed2a CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 620757b3-f0ed-4356-b208-5d828730d48f CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56715ccb-8dae-4361-87c2-165ac18a5a73 CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b91a5214-e016-4b6e-aaf9-5cc8d677e582 CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480c7448-03a1-4ce3-8445-f6a65840bd6b CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee277d38-3802-4a02-835b-0fc0feecd8dd CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba366fe0-d6a1-4b60-9d32-d965db1e6bb5 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 063923fd-52ec-488b-bfb1-a6b5f151422e CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99cd9e6-a831-4e93-bed0-94c337391363 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97d1aa2b-ee35-4c12-bba5-80eb97851e8c CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ca3b2b-8c47-4ff8-ad9c-feaa13f1bfea CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bb9f8f2-a80f-4cc8-aa18-a2fa0b079e59 CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268fb7d6-3595-46d8-be58-fbe8e4a85266 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90c4ebb5-e863-41f3-b1f7-3b621e262396 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f705c57-16c1-4159-8ee0-d5cd1149d012 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75be7488-cb14-4c1b-9ad5-2bd168750fb8 CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82d99fc-fa55-49e5-a9b3-34c72d805d11 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82d318d9-6218-4fd3-b08c-208b3541fc3c CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77269453-5f6f-4cca-9cc8-a2344032f421 CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0979e220-a31f-4ecb-9330-cdeaaa1decab CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1806a50-bf5b-42e3-a8d4-511f5ebbea97 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13ac3a94-1992-4fe5-aa4a-367561eaf172 CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6878197d-6c48-4616-a271-9715f0e9d7b8 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76a16203-61a6-451a-b904-830031c0c512 CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84f06b6-5fef-4ef6-bddd-37675e25f328 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10df68fd-9add-4b34-a4ce-29994246ea15 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b61d5cc-81e1-4dc9-83c7-a51cc60309af CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e708db93-b696-447a-a2d1-1f9a4a90a9a6 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a60691b-8e55-474f-9cff-d31cfffc6570 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94866598-d7f3-4872-b0d2-cf1434658231 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd13ea2-8ff0-440f-a8e3-8f50c4e0349c CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51ae6e6b-a476-48c5-8de0-1096f701b407 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff3d579-4084-4004-80f7-d48f0b79bd4f CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f206e96-8266-4ef3-890f-e0034980395f CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62047740-e3ae-487a-b088-f114a8a73eb1 CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4feb133-60fa-47cd-8d3b-f913c35d83d0 CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9050ee1d-043e-425d-a9d2-6ac62ae8c8bc CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85eda9ab-4701-4bcd-9989-005d941cb19c CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94667b57-797f-4403-8280-deb30f3096ae CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19530708-e216-495c-9dee-840233406018 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623a6fb2-760a-4178-8d00-d13bf47b7777 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa2ad962-ac8a-4ffb-8b07-cb6c501bd8a2 CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ec7bfd-caf1-452a-a8af-1cf159d85aa2 CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e61d0058-da53-4b6d-8e37-cdf8868fdfb1 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603740f7-a764-443b-b561-4d792da43609 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5b9664e-17c6-4bc2-a321-a1c8c8096896 CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3ced52-66d8-40a0-b8d3-fdd4a6b01398 CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5f522f4-7124-4967-bd9d-7b4e0d3309d0 CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33da309-6645-4d89-bbf1-411198540865 CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f59761f2-545e-4f89-87d1-b07cf91c3455 CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7883c558-5685-4d6b-ba8c-c520c6c15880 CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef29518-1587-4e3f-b582-21726ed8a985 CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4b74dd-f28b-4a32-86ff-589036f17119 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4421fc3f-efdb-4ab6-ab72-177d5a45c7f7 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b321bd-62cd-4f61-9f37-02fb02957855 CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f03854d1-05fe-4630-a410-33f3dea80ee2 CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78348615-6e33-48fd-8cc0-57a3f72a7296 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39a51b2b-d6ea-4854-a2af-39a2406f2003 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca961256-aa25-4dd1-972f-1b0ed2f2c5b6 CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f19958-4a67-480f-8a06-c017b8221579 CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edebacd0-2152-4440-a469-a70d9341e6e5 CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0a9f8ec-62d4-4169-8dc7-925ca0a69a8e CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6c61bb-9508-40e8-b680-4168fa0c5058 CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71e2b84-2433-4d78-b18c-8d9a7c7120ca CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bab8d1-b921-4e2f-a3b0-b7cf636a0566 CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3ea2991-d64a-4a61-9606-fec8adfb738c CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9c4c59-1168-40b0-9e73-e5f71c73f5aa CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 863e5d5b-977b-45db-a0bd-fa2a37f014d7 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c796567f-8a8e-418c-9613-98b00e948b7c CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 592c5f1d-44e0-43aa-9a03-8b6560ba3dfd CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe50e86-51f5-4a32-9569-534c04ffd8e4 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ce782c0-85ce-4112-aba7-925c203c9de5 CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df66f96-4172-4852-b285-c4038f1bf88e CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba5904fa-2c09-4567-8d83-fa10e3580474 CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c2ff19-8f65-405c-8244-797734a83152 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37d69ed2-6c35-458a-9182-f6d6bfdcec96 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b616ec-41c4-4fbe-8330-52bdc11d9552 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef59800a-c7fe-48f0-b7d0-3d1bbf975bd4 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed97734-ebfc-4ca3-9837-518c79364417 CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c87bc83-2650-4c34-9acf-25a8aed1c5a2 CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458728b6-2f83-4476-aca6-51030ba96b09 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fe9b474-3641-4f76-8572-2972b0394b75 CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe23ead-83ae-4c90-93bd-78b0d4db8580 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b433fca-1f35-4843-a6ae-c3de37d6b305 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8ca913-64ca-45fb-b112-9fb5f1bfacc6 CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a0d73d8-89b5-44bf-8b79-86b759842d5f CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a833045-3900-4401-bab2-8a1ef10c1632 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 772035e3-d155-41b6-8cce-139d87c8fdbe CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eef63ca6-fce7-4a0b-adde-33b2afdb88c6 CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0cd49ed-4fa4-416c-808e-727e68393118 CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b68a0c-d3c4-4833-acb5-645d40a1d316 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a18069dc-68d3-4032-a74e-9eaed4b1721b CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e9a790-3601-46d0-95d5-76e32b5edabf CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fb655ae-692e-4c33-b73a-ecd67b102b40 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9356a4-9905-4082-bae8-7f958d0fb99f CAID:CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d64642ba-54e0-4fc0-9eae-bc77da0fc01a CAID:CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576ccd2b-d4f3-48a3-8aef-564e18eedbc2 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41dce160-0939-4960-9056-22a3d7f662e0 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fa000d-b2c9-4824-b3ba-3c32e7af0fb9 CLINVAR:2674649 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec8c96d6-64b0-4598-aab7-a38ea75229e6 CLINVAR:2674649 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485ade74-0eae-4c75-8c2f-eda88896639d CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2058ff39-0096-420d-a6a9-775bb0cb5be8 CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6d8ca8-b8cc-46bd-afc9-f4cce858c9eb CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87debc94-0e32-4096-bd65-3fa4980dff2e CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6282d8a-0bc4-4550-8b82-4ae06779aa11 CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 004ce1ea-2e8b-4193-9afc-e76c66240859 CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f0852c-ea06-4faa-b45e-76d10a7e0e52 CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81878422-0ebe-4c6c-8c29-6d142092ac8c CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6685b89-b74f-4b2c-8988-b02af85ff25c CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bae15380-f2c5-4099-8ab4-3eca03d14df7 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3494d66c-4e02-45e4-936c-5a0ce4553c9e CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 866d9cad-1758-4b9f-bf23-9db7a4512e41 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d52a868-5822-45d0-a500-e6890065ca77 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e91ba34b-3ac3-416c-93da-b4247b32908a CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85227bf-0d71-4b76-a026-91aea9e9060c CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e06c4b3-7766-4bd8-a623-3dcc04f2064c CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08c5ed-6e15-4249-b387-fd5bb7067d2b CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb2dec17-bb41-4d01-a191-c93460204544 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d454d1d9-3a92-4f9b-9bdb-0a3cc2f708fb CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3b81c47-cbba-47a0-8add-d779a0a4f047 CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58e33b2-0f23-4069-8c0e-4dabfbc5b214 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4bd3440-6694-41c8-b60a-345d57c44c23 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d325ef6-2ba5-44f6-8077-ce35363a77cf CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eba2d2ca-e235-4017-a324-4f15f91cbb61 CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd767f32-b02a-49d3-818d-a242a5a53d66 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27ae8321-be3d-499e-bb12-1fca5a455190 CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f39a72-5e42-4080-83b8-e7a37e7076f3 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b3c574b-3ed9-4f27-b32f-a93ebb65599c CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02777fcf-a403-4cb1-bef5-e6f0755c7f4e CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c614001a-52c9-4060-8769-f2fca854954b CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8610b512-81d7-4973-8288-4ad1579c9791 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1cd3f66-325a-4a4d-84ef-73421b6f77b8 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d473f5-a90b-4a4e-bd43-2e1276903ab1 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94e4a9cc-4a74-41dc-8ca2-f717759feb5a CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d243ffa1-2bb8-4b84-ae87-ce8b39df2833 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53ecf715-eb93-40e7-a862-f4e139ed8985 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede466fb-3790-489e-91cb-80aa1e234db8 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbdf5567-c076-4c58-8df6-073dabf7f0b0 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8f17a4-08a0-4f3b-81d9-017b8425ce78 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d73d96d-192f-4580-b89c-f92de3a473d6 CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e990216-c4c3-46a8-b065-55bf61b15c23 CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e21e0e8-4b70-4339-a731-729fbf92b053 CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eb207f-8ee8-4225-94f4-c2d4d5ccb428 CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7b5875a-f461-4a5a-a178-8897841ffd54 CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d141220b-11fa-4236-b799-a5f6b2063b0c CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bcbb28c-a81f-4486-8953-d84b1c2ab738 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a36fde3-c88f-4b64-93b9-b3532e33f58c CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10e85484-b378-4537-8117-0f16ceb4ba1c CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc781d6-b964-453d-b040-3ec1b56d30ee CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 892500d0-ff7c-466a-bda6-19953c84f543 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aada1a8d-c6fb-42a8-ace2-dc31ef043a67 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 684ec2b9-8944-49b7-a5d6-44dc8a018510 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a1e74c7-32b2-405d-9d3b-232358cdd697 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6a1c6c9-e18d-4afc-868f-1d3265905282 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bbd4a30-2b03-4dc5-a265-55ac1ae0dac5 CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19f1f2eb-24ed-4454-a064-f0dd95f9e206 CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c64630-1719-4730-a557-13f0e5245870 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b679f88-37f7-4c7b-a929-91f5bd6aaee8 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b434fe8-d35e-4d18-929c-266b0495e25f CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 449b45c8-6e5c-4561-896f-0bac0dd721a7 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8235591a-a254-4d74-a38a-1ca8281ed398 CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d05bf128-6a20-4976-bd30-800a9d96f259 CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a113c3b-4d11-4160-94a1-41e03ec4f4a3 CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6b1713b-6530-4cec-893e-1e08def1e10a CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac956ab1-811a-4d7d-94fd-32c57cbd750d CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecac73f7-8852-4d3a-9ebf-fecf02d1d50f CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79300217-c3de-4017-af6e-35eb0e5e178e CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec894553-c25b-454e-8742-85e98342134f CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f8cdce-c95d-4147-a657-5564a35564e0 CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46c5d661-295c-465c-bf9a-0e301f6de062 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f3d22b-a063-4d3c-a82e-73b238580f3d CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ffdf636-624b-436e-8b89-5de296213121 CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838cf8c9-8d3c-44d0-bfbf-246094ea75c9 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d27f173-d2a1-4d0d-8380-32872b105799 CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d866418f-6c98-4672-93d8-c8a07040eca4 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b50e4034-ef50-4142-af7d-5c6d70967d95 CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d53b35a-8d85-4391-8ed8-bc6cb8859d35 CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd675b6b-83fb-4436-b486-f3aaf201b45a CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5716299a-6263-4a06-8b32-429a4609a075 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e8c990f-4cb4-4370-928f-607c1a43a9da CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010751e4-0baf-46e9-9519-3b668eb70a69 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c41c540b-7ec4-49da-be85-f6fe6634c7e9 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39fcafa1-446b-4d23-b143-ff66292983dd CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0690fc01-5149-4d05-867d-565adcc77d6a CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d19f393-59e9-4926-b2a2-e4203ff24439 CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c18aef1-447f-417d-8df8-432119b113f6 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b52197e-4bb1-4677-9f8f-13ea468951cb CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd755936-aea3-4528-b7be-2f1a21322d7d CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93df3358-e8e9-45f9-9209-615d1ac732af CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f336bb-ee52-47ac-884c-d2d48bda07f5 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7b9827-b24a-4968-ad2d-27683e5faffb CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef9d8e4d-3929-4761-ba53-33fbfe9b57d2 CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6007e625-a3a3-4aa7-8514-2f1192a909ce CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa181543-8c11-4db8-91a8-6c946899d684 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77ca313-0d64-45ff-92e4-d904cdb4c55e CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a04e6e47-c50b-4b32-a1e0-041b5621453d CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209fed2c-05f7-4130-8bbb-4df925cb84d3 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c1840c4-fca2-4ad3-be47-c39a19f57b9c CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33187179-0c36-4167-9e51-3a1ab9da940e CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c6b8815-85ca-4006-8bd6-4828bf3dc94f CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd29aaf-7f7c-46b7-9a6e-aaa7df25db45 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c716f640-618e-4860-8e12-e6c5e898961c CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe24ace-73ec-4401-848a-00ce1d41e5c2 CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c1dd509-66ff-4c53-bcd0-c6c163f578e4 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba9014b-4c9c-4a2d-af1e-4e7da53f74ec CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc331c07-5820-47c9-89e9-44d00c52ffeb CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4c9f9e-0cca-4d27-ac8e-e16c020d5ab5 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 945888a1-d9e4-4fe9-aba7-6d92f4c76097 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae33e616-992e-4e32-9344-894022be5baf CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b334f50-582b-43e7-95f8-8edac4bcb43c CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6b8475-f7e2-49bb-8339-4e2c96e363f7 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea04f008-8f93-4129-8e9a-65e6dd13d5e2 CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed374703-47db-48f8-9682-69489bf167b4 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7245fb10-214a-44d9-97be-eb70ad4dcd63 CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215bd3c5-cffe-4c16-84dc-d652f05a8b31 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83ce71b8-eabb-444d-9c21-94781a699d1d CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060b8115-c665-4e2c-b267-4ccac9ac08e0 CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d91be25d-06f5-492a-81a6-fe32a184b920 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9324e6-eff6-47b8-a6e3-3708ec39cff2 CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634bb0b5-1b06-4d01-b847-3970e1ff9706 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57abfff-a54d-433f-bd70-63594f2785d3 CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3a118f1-ab17-4532-b953-7badf7e6b323 CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd86c35-842d-4d65-89b5-1e81a2aac2af CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 222434ac-23f1-4be4-ad27-c0918c1b83df CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15919678-6f42-4d01-a20b-b0e7072d767f CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77fec8f0-9020-41df-afe4-2e7fdeb4f5ec CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2a5845-9be7-46ca-b24a-e69f64c8c754 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94344467-cf3f-44a0-9b4d-b453c241c80f CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176a3461-29d7-4edd-b342-acc58453d150 CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f85c498e-2abc-45ef-bb63-f65a374ec480 CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bef8805-6b13-40e8-b6de-be412c5b6241 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9a2dc51-78cf-4a89-ae9d-748b7c807430 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74af4d94-a286-45fd-ad5d-09524128139c CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45a38a71-a6d7-41f9-980d-117220a4f941 CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f8aa3b-9304-490a-bfab-e61cbec8212d CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b8e960b-a4a4-462d-947b-5c0bd64c6a67 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e7a2e3-61a8-49ab-8e45-9000ae28f2cb CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52a5e3bf-3810-459c-ab24-93df58ccf6eb CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dba47ef-d93e-46d2-97b8-6ac1b889ce43 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee7e54ed-ae2e-4e25-a791-d5ae08d77563 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b73a69-39b4-40f9-a6e7-41dcf87c649e CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 572b9101-bed9-47f2-b81b-5a7bc116f0f0 CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300225a9-d984-4f61-a373-7c20b1f37664 CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 496ec1f9-f4df-4e42-b1e0-eeb0a4fbcb29 CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf623dc-86a6-4c47-adb2-e929ace4d98b CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7eb7013a-cf38-4688-b939-665acc684928 CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7425054-00ed-43e6-bb5d-03334478d982 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8000937d-96dc-469f-807e-c158328a5035 CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76437576-52a9-46c8-8cee-6a877f794575 CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79898dde-5a29-4cd3-b2a8-dd1983b0a68a CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660f972e-6549-435f-8951-34366ac2e20c CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fc5127d-cefd-463e-8383-0c485d4d75c2 CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3bd825-00b1-49db-b963-741f1bfc3f53 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9977ffec-1cdf-4036-81d6-6990fd9127ae CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c312d6a4-1641-4b09-975f-cbc9701cc533 CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b1cba2e-9208-4f27-a215-520d5673d9bf CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5baf2cc7-e3a4-4111-bfb8-7bf84879da9c CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dbdd093-a98c-424e-b4ac-a03992f1ac35 CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f41096-a83c-4bf6-9cc4-09939b910935 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 465ce922-7185-47a0-a2ae-d77311ebb92f CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df43cc5-fc46-4a23-a0d0-21052b6f59f9 CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9ea862b-0686-444a-9480-ff976766fcc1 CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c826779-21f9-4d18-ad74-9dd1e203bf44 CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0db34dc4-454d-4c88-91c0-33dde53f227d CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af239bd8-163b-4de7-afa8-7abd0817f638 CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fab9bed7-5e2d-4c38-b97c-9fff36f657d4 CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c09a03-8a12-4ef0-8477-a1a4dff8ce96 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27bce23e-e0c4-4838-932a-732217cee800 CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb558f7-af40-4a5d-9381-2892722c1c28 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf7bd69-a092-4c9a-8fd6-266282540306 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353a4318-208f-4fbd-a891-88103dba7993 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cec34773-85e4-4209-903d-ea1fe2a8b317 CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbfb276-4b9b-4620-92a4-92dc217e32ab CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bdb02da-e195-40b1-8e5a-fb660c627794 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebd43b64-3933-46a3-a0d0-41a0962fe7c3 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c561d2ec-574e-498e-9957-9f3cdcc0f4e4 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607f99ef-139e-48a5-b433-051ae5dbda88 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e07bc62-779e-4636-bc4f-f754d0ffbf6c CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c25608-cc9f-4185-8e8f-59bb60a85941 CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76c510ad-e1db-45fe-a78d-7142688d75f0 CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d057a91b-d121-46e4-b907-1c9f61cdd7cd CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d786f18f-b245-4540-8c72-6dd8c13fccef CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e9fd4e-3db0-4c44-9c47-12fafcef4a55 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f625f70a-0d2a-475e-aeae-c8ec29462f98 CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7f6f11-7c64-4ed3-97be-67f8f283e68d CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 716f6744-90c0-4c2b-8362-5a839806abb9 CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d794365-e999-4119-8a0a-25484aa83362 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d7103b3-b42f-42e8-8ba3-8f16e3131e22 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1833abeb-df57-46b4-adf0-4d7bfe2a6753 CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fddd678-7a93-45ea-85a6-3fc5bfd6c813 CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce639f79-bb12-4838-a8c0-0988cd917d76 CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99412b9f-4c3d-41cc-8ec5-68cd389f0d08 CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52cb43e-5c08-4ae9-bd5f-30579c7904e8 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a7d6a8e-ac7a-4cd7-be41-f6ddbd28948d CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442a4578-c70b-4a76-bfe6-e6082d6a10dc CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c8819dc-435d-4053-a840-134e4059e56e CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b161b8f0-dab4-4ddf-b55a-e962b485aba2 CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 206f7ebb-37d8-4b49-8122-255f4190ce45 CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b86d8c0-9d07-4cf6-bde9-941d6adb5d86 CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0359ea31-eb9c-4960-bebd-51bded0d7ca4 CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad46b4f8-907d-4f4a-a72b-67dbb5cfa7fb CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc1f40f-84fb-4ea0-8125-4cb6222c1361 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af5b6bd-79e4-4ee1-a43b-a7437e0b1efa CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a76dd85-6dab-42e7-a11b-e61181a93d76 CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e2dca6-aa67-4c1a-b602-4d09cdd2ca56 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ae973ff-f6ce-42f3-8122-9581d84925a2 CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e9f7a3-9c66-448c-8c6a-f0be99217e34 CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a7d44a4-9ae0-4b6f-b748-4b2d47b1eb92 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce808b76-2cd5-4d21-8a05-9e8ba1929abd CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec6873ef-ece7-4722-ae3b-280cee088ee4 CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ef93df-4741-4c53-b5a0-a36ea2368b40 CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ce7dfff-0387-4d21-9f53-faabc774f1e5 CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f8abbe-9df6-450a-8382-1e89a44ec4cc CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 507b5468-358e-465b-a6cd-11b29346ce93 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279dcbc1-4b88-42bc-a3b5-eb7f684119f6 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ba0e758-d44d-46b0-b89d-7b494f2083ed CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370a206b-994b-4863-b2f8-950d0b11282f CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c534bcd9-cd5c-45c3-9785-415fcdba0d47 CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8ca4ae-2750-4209-b81d-1255aa391167 CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a725473-7a75-4dcb-8cef-006b48d07c56 CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1f9334-8b2e-46aa-814d-932f22244a0f CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7559116-82fe-4bb2-a67a-689f15c0a982 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d955a6-f2cc-42f9-aeaf-538e0e2de22d CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32460d89-113d-4fbf-ba27-35aeca0941be CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7151e325-dd76-482d-b174-70cd766852a4 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f476828-6869-4f56-85ab-dcff297dae56 CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd2f0d6-8f6d-4ffe-ba34-3744d80c29d7 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 206ae0aa-4f60-4841-919e-15ec9e38354f CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b792c2e3-b11b-4640-a6e4-0352ab504831 CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a946bbbd-56de-406c-a4bf-49615590b488 CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c23f733-cf96-4cfb-8f88-8f9ae657540a CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ecacab3-54cf-46a6-a12a-c02f52160578 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42e858d1-5481-4c16-82d1-d8f35fac56f2 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e49e55a0-428f-4aa9-ac94-a924ddf5c6a0 CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9afc2111-da83-4f21-89ff-27f5b569e0a3 CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e5ee5b1-1591-4a61-83da-2f059c4a1133 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177fd015-77ad-4524-a8d4-aa6f4c20b7d1 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81ae61bd-3aaf-4b81-bbf9-9d822923af3b CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94113692-0123-4a16-807b-8e9ebf6c06c5 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39685827-9d70-4a04-8819-a4706972ef90 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146c4a2a-22de-4728-be5b-0914b6b5a1eb CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c6a4ee3-b548-46f6-bc65-5dffefc46ccd CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c5019f-7c76-40c1-a362-4e4db752b2ef CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0285cea-47c1-42db-86ea-3b851d38cc29 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761c67d1-6b2a-4be9-9b2e-4b8f5ae11e87 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd1f79b0-827b-49cd-b75e-78d434fcc57a CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bff1ec-4455-477e-8a65-c25954949ceb CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f9b4f63-34ca-4741-bcaa-8a93ac369c9d CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9ee8c8-16e4-4384-bac7-e1bd96b025de CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 552e246b-03f5-4263-97c7-580db33f66d2 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc61f135-2a5d-406f-a907-ddebb1ab3be5 CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed9e7cf2-2a6f-44ea-b6e8-5cadd899dc69 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c6956a-8807-4b98-ad4a-2e91324aaf3d CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6be364f7-c3d2-480e-a6a8-8da9f051798f CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f092de-e8de-4dfd-b87d-7514756c367f CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4328f08f-2c27-4fca-9d9e-db56a525d5b1 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6432c0-3842-46b6-a505-f187ed6637ee CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1be72f6-8680-4605-a4d2-9b01520d71a9 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ccbb31-b52c-4d88-8b60-756a800448ae CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41192cf8-8c50-4375-be96-546c27546007 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3970327-9426-4538-a186-5fb7a76697e9 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a41353d2-3a4a-4d7c-aff4-6b5ec9f36044 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b13d6d3-9f48-4d96-ab15-f2672e348598 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb9b0f9b-f600-449b-8683-6bdd7e1f61c1 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3baf2b48-d0b9-412e-b676-272e0dd4d16c CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb91b1d8-e2ee-4133-b8a7-02c7b10abac0 CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbb5c4a-0cbd-4c6c-bee3-b655163b483e CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a1f6c50-0480-4640-bea2-0fe4a5a7ca5a CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf4f935-4559-487a-bbf9-75a799c4a7a8 CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd0b34a-3d9d-4545-9293-8ec11cb24db6 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d972c908-072a-4528-ac2c-6a7c0c9ac333 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7d8dd39-3e6f-4226-9820-81063f2e54ab CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27f8acf-8f5c-49f1-8588-870045de32dd CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc5c22fd-9491-48dc-86af-242cc9d08a6e CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be974ab2-0a9e-47c6-a1cd-5b79d2155645 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6016fa2f-97f6-40ca-a8f8-1b2c5c57e05f CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e782976-31ea-41bd-b420-d619ae88978e CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfc1be48-be19-4a71-9d91-fd1eb57e1d7c CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3038af99-5ee2-48ac-8e95-b5821f7aa28c CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fcb76e0-5bd9-4286-9358-9d5e4780d9dc CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470f4907-211d-4ecf-aa0b-e25c2200723d CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 008adc69-ebfd-4d12-ade8-c7f63bb21e73 CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d38a4f-924d-4ce9-a5e8-9671bc71e389 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7100ff0e-2d36-447c-96a2-f69dd2c03043 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217dba47-7396-41d3-bf2b-30d72fc1a989 CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7301913a-1a66-489b-8969-35b52a1cc0ae CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460c48c4-b4d8-45d2-84a6-c6cf2f034847 CLINVAR:2665098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0611f1d-a50b-4e9d-a754-3a83dc7e5d10 CLINVAR:2665098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac194d8-77b6-439a-93ff-e7a3cc790969 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f93e8e80-8c65-438b-a0fc-f7763b5cbc2e CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26945f0d-cddc-4931-b22b-260ebb1e20a0 CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14c4541a-cdcf-4a7d-8613-29f8f6b79dc2 CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbaa50c-9fd8-43cb-8da9-3d6af5efb9b3 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbb6dc3c-acfd-4536-9f65-07c7664e8d8f CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d133875b-9939-4ea2-a627-b508c4104a38 CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ebdd1a6-0e4b-48db-83a3-8c11f1ff0a2c CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13ec9ec-06ce-40f0-a881-f5c5aa56f90c CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12c89f7-2d0c-4a46-b1e8-f627d4fb837e CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023eac98-4469-4b34-ae5a-c5ef41889c67 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f22e15d-0cb6-4ddf-80fc-02196e8b12ad CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87d923c-d4ab-44f4-94ea-f396e2d939c5 CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b34fd046-fd79-42e5-95fb-d1422fe3c4c0 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c8f25c-9c7c-4388-95a8-08155a77fb09 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79bdd299-1298-49ad-9cc8-f0f2db4ed47b CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b58bc31-2129-4ead-835c-715843765d3c CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63bdb953-e2c1-4fba-8148-3d862b714886 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6891fc75-16ba-4ed3-8a91-4d0f807320a9 CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18992a38-8223-40b9-b9e1-feb586d94dc8 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9c28a7-49a5-4c15-b037-2622c0eb8d24 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c58aa491-d72b-4f91-9e63-9a4eedd04e1b CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80baa9c9-e5f6-4026-b44b-4aba346befa8 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9e0dd82-9ed1-450c-8a64-40babd187a2d CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fa4d1e-44a5-44a4-8679-c6a6e8285c80 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80b1ac24-95e1-43d3-8da6-0f4130b7b200 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060a1785-720f-4915-a34c-19f4272f7c2d CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a28577c-dd83-4469-83fb-d86bbe78e52e CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d151f6-3e38-4652-b58f-e014839f4e70 CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bf5419f-1855-4ce4-870c-f3435e8dd8d4 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44790371-9a03-4827-8e8b-d71089a1e09b CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce5d95b2-261a-4ea2-8d92-c7bc10e83639 CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1c2a4e-bfd3-4efe-9dea-ad51566a81f3 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8844b0e4-26d3-4fb2-95dd-a20411844d85 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b79957-7354-4b79-ac75-d2a8f5b862ab CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 324139e1-9dc5-4c28-9a29-0ac7f9789422 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b82df8-81c1-4851-a4e6-237ac35de2c1 CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64b5189c-f1b0-4176-9eaf-c7bd84b0f503 CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3b086e-3ad3-4aa6-a47d-b4838578b929 CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee8d3199-22fc-484a-a223-e6637038f7a1 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5d56a9-356a-413e-9e30-1a5b03b251cc CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2feb2dc1-e2db-4640-80af-509110aa80ca CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e549bb3-f66e-4f8e-90df-7bb62d15d5aa CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 781b73bd-b9ed-4e88-8a9a-1ab4545d0eec CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e92d676-0811-44a7-944f-0982185a139b CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddc7962a-4eb9-4c41-bf01-15c18a82d92f CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13eb16d-db7c-4fe7-8fc7-98e7cb29ffac CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f92b1bb2-a33e-403b-b140-24ff160bf3bd CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b1243b-518d-40bd-89ab-48bf0c98decc CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9d10ed6-021b-4081-94b2-2d924464b24d CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9baaef-356f-4d55-af09-ba97efe1f77c CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff286b23-5a79-4af9-b8bd-c7f7e85392d1 CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179e0076-dafd-410f-bd90-9e304f1243a4 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b9a8bb0-f710-408c-b68c-f4eae1abf1ee CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18129a93-a2b0-44a4-ad62-7a15bac918bb CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0406adbc-44e9-4603-a01d-9f29ad876ea1 CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b900c0d-5c6f-44f8-9829-d207d80926ea CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f7ee000-b251-447e-8f5b-4dd88be8e6b4 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0916ec07-cdd1-49ed-8abc-742234793276 CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad775a1e-4355-4e34-9167-62b89a5fa906 CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a21b24-1ae6-4021-a5f3-4cca499c3db2 CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f42ecf0-7bf8-4f24-9c27-0454e14c4ac1 CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a286e786-20e9-4c86-9b90-b2911e8c89c3 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f18aeb20-3e0b-445f-82b4-b4091f6e636c CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d137bc8-cc0b-4be7-ac38-29a381ebfcfc CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34770867-25d3-43c3-9c30-e730003a8dd5 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ece37ff-b914-48ce-9088-8dcc71e98155 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bf4dd40-bc97-49c0-9b97-689ea111e031 CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe24386-64da-45df-a185-f67042b19241 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783caa1e-b79b-490e-af35-4101921573f7 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed1b246-3bee-47c6-b621-b08f9cf32e2c CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0a73062-d59c-4842-95fd-32ed7d6bae68 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea638b54-b131-49bd-9574-ca87de3ba7ec CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 932a6bf1-85f1-4273-ba22-bb0a5a28f6df CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4f604a-9483-4b04-bbec-a730922e182f CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74b95ece-9e39-45f9-be55-2c1a2bb9df32 CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727838df-80aa-477f-95d6-106307f10d75 CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c2c463b-5e60-430a-ad37-6c1b1e04d027 CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7c3802-ce51-4edb-a6e8-f06af4f4e974 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd0f6a7b-1c0a-4a8a-92cc-07b4177228f2 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130f8f41-7697-496d-962b-79c03537d1c1 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b368e308-5efd-4071-a4f2-7c913a732eb5 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81694462-1475-4de5-9ca1-2c69280ef5e9 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 272dd64b-d9b4-4fa1-aa51-0f95019d7e1f CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5ae15c-7543-41c8-9372-b24fa00f1912 CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e1ea1ca-19f2-4f06-a3d6-9304293685b1 CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5cdb97-7586-4248-8317-ce89fb8d9c4b CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec21bb08-146d-47c0-9e96-659639008954 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9462a7bc-3e46-416e-aa11-b77c826f5dfa CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ae0d5da-6961-4ca6-b473-20e6ec843461 CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a596969b-eea0-4993-9ae4-c57dd6b0902f CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da6384a7-fdd4-440d-be9d-c0128d6d7973 CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa415fe-156f-4fb1-9333-999721fb1fb7 CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b12eae08-6c21-4986-a200-2b9fd20188b1 CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fd35fb-9a8e-4e17-bd51-ef0f7b18991b CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94d3c183-8848-4489-b564-915eec23b252 CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ae50bc-65d3-4761-b853-1f8708a8aee9 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 225aa0b4-0d1a-43bc-8f23-e3bd469314bf CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670dcf94-e1b0-4f4a-af11-fbd6bde30887 CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 676b94f7-6398-4b5a-9cde-06d1abeafc82 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d0e0f4-05ca-4253-a91e-790e1afd7a34 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a3ed5f8-13e3-44f0-9a73-c2ed399a9eeb CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce5b806-63f8-4c2d-bd03-407521689f3c CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8c9be24-3774-48dd-90fe-7d186db43c83 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0384b0-97d0-4e06-b832-8bb2779de8fb CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8b66bb5-54a2-44de-93dc-db6ff9472162 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bc4605-cf41-4f6c-be24-0abbb6d1e1a9 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaf55924-1848-493e-85cf-0b3a501ab889 CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9383ec34-5c02-4208-b800-d94326292e90 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5281a428-eb03-451f-bfde-9018a2038a84 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c5fc17-7064-4d53-9307-66ec487c7237 CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9057625-462c-42eb-a6f0-818961ffc6e0 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678324f7-4bc5-4a18-8dc2-05040981ee13 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27ec3db6-996b-4964-8b2b-b8cb9b2d3dca CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09437745-a3e1-493a-9edf-72fe79cdcaee CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d557ea5f-3d3d-4c8b-8395-0c4ad115ff1c CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6c2e7d-d051-440c-880b-25eeb8c53e52 CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b60ffb4-9c65-4c92-b479-0e35f7ecf8a6 CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab6b0e8-a40b-408b-b942-ac1fc1d1edd3 CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1533973f-1db4-40f9-815c-4d17bb9e66d0 CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf62f3c6-f92d-4c78-b472-6e791b38b72f CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 484be0ea-143b-47bd-a87c-b53a30d4bdea CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb8c6c1-456b-4b5b-aa29-8add96d70b65 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a682dfe-53e6-4981-802c-21fc968b8cf7 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e5fa4f-0df6-493d-a4e4-b018f9e8389f CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf91ef41-4be4-4fb0-9e8d-9ada64b52bfa CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b27fa7f-6e30-47ca-b855-7ba1baa869c5 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed34cf48-cd96-4df7-add6-90ec8443104a CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837dea69-1c27-4412-b0bf-0dfc30d07a25 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e38a3f4-aea1-42a0-bd0d-783deedf1051 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a435950f-62cf-4a4c-9098-cec2addd4764 CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6154a35-aa77-47ff-978c-4e57e6f30eb6 CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd85e93-167e-49cb-8f82-cbc48abeb728 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54451551-0eb3-46c2-b2f4-4d61e8909ea5 CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1863c3c8-15b0-486c-ad91-fedee38cd216 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07ca3938-ee98-4272-bcfd-6db376dbefe3 CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b821e8-3be0-443a-a9d9-2dd74e204618 CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0d1a91a-199e-4460-b2e4-c8ce9891ea80 CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7c7847-8a82-47ca-9f60-c20827586e7d CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fb2c586-e6c0-4e93-8978-1eacacf3792e CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3858b841-d593-421c-9b4e-ff2c9b5807b9 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba65f1f6-5355-4b44-8f52-0048be80da02 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 684ac9e2-49bd-4222-8492-f01987d369c6 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77ff5778-a350-473b-89d1-58b8af9746a8 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9960f918-0bf9-4078-a033-ce322f5fe7e8 CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9150879c-42c7-471e-ad2c-2d803d671981 CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679722e5-0948-47ad-8ed3-1eddeac796ee CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74340fd9-f793-48bd-a016-d51fc05b3848 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5887d1e3-6cda-46ae-82a6-dc0a90c8a902 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5f06571-9d57-4c6e-b899-63dc15702eec CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92ed57a-3e71-4d4c-9746-6369ac3e84b0 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a940f2aa-50d6-4677-ac6b-c7849bd67df5 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4edc9d83-9061-4c3d-baaa-b431122ab760 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99e32652-72a1-437f-9b52-4bad368e1fca CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fc8197-8ce7-47c1-af1d-255fec4d28a8 CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2250940d-f077-42c3-a972-63a7169c8d96 CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b1c4ee-adf0-4dc8-b228-32eb73ad5f9c CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72042f9a-78f3-4f63-80d8-abcb002860e1 CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e2a2ce-9917-4b33-bb4e-2664b8c1a1e4 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e90821f-99c5-4179-9ce2-77c49c324f42 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f351f126-9f4f-4aff-8182-fe8918b63c30 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 782d61f2-c1ff-4786-8013-c06254368d2e CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53fa0e64-ad5b-45d8-a188-d337fc7fa487 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f30a0b6-c1b8-45d5-8d1f-0f7dfde32d11 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f9e820-8c89-493c-a5dc-23fb28c828f4 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b76d9b-4d90-47e9-b0a5-e339050804f2 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ca8106-6af7-47b2-b272-b89c622be359 CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02191d90-ef8c-48d4-a3a9-ff10a3f2c891 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c609c955-73f9-4c44-8602-201f0292d429 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd0b8667-ff1c-4969-92d5-44a7d7a68b17 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5746c52-00a0-4482-824e-20aeac6e459c CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25997c61-1a15-4e6a-be74-bef585b08d85 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ff7799-c2d9-4511-8998-730b52a45c1b CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c095ee00-18f5-4430-9aa2-877863652f53 CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ea6f2b-e9bf-4a65-89b5-1ba53d4aaf0c CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ec8e53b-40c9-4238-a55f-a3ae1be46745 CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9562b8-a743-498d-88f0-30fe19bf7124 CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1c2cc28-1b02-485e-a58e-fd6c2ef70ea9 CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcb87cc-2fd0-46d0-a272-eda681ff02bf CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec1dba7a-f9da-4600-864a-7946f4f0ca1e CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26b81ca-0c6f-478f-b4f4-4aa32ee1480a CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bf82f64-37c6-4dfc-a44f-3bee5c14c886 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18286023-ccd3-4f65-861a-430d55be8533 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d0c4c74-8fc0-4bef-94e9-c816b0c08d16 CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4bc726-c17a-41fa-9abd-ff3925672566 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56675bc9-3018-4325-89ed-42f0e7cbeab9 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58357c8-825e-4ec3-aed1-384e51c94a5a CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 262ba650-ba5d-4c0b-aca6-592afd91fa78 CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa73067-aeb9-45f8-b606-f64a1706ad6a CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 880db197-5b62-4137-871d-41cfbab56ee0 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eef3f3-0930-4474-ace8-a0f995a1d3b0 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c24fa8-fdf3-4eca-8ebc-53e37c38e05a CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afea11e9-6b9f-4bb4-8a2e-61e94a1a16d5 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16f05a13-aab7-4df2-ad9b-de8b78f4771c CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d1fae4-86f5-4a60-bae7-ae658d268a76 CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 584e7c94-1cd3-4006-bee0-2fcc38c9ceb8 CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd413fd9-e746-4113-9096-22a5d4168dc9 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9d337ee-6d52-4170-9138-6f98628da0b7 CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19484dab-c522-409b-a562-fa2d1d2b5785 CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8652636d-362b-4075-9192-94a3297e494a CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b3b5e5-13a7-4b01-9d4e-ce5fd8d8332e CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45876130-9909-45de-a1d1-aa04bd084546 CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0efdc9b-c6e4-4785-8379-a9c82f0d9b5d CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d3630c7-4bb8-45a9-995b-85115c111e3c CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b61a8d-16ce-4acf-87c5-75cc4a3eeb9a CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33acf96a-282f-4675-9e89-fb4bb0adac02 CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dad178-cfe4-4625-b71f-f8cb75acf8b3 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44c45432-e0fb-4eb4-ac54-e76a51fde07b CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8e6c1f-811a-4044-b5bb-89c184257783 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 994f7f50-a6c4-4c9e-81fa-46593ab894a3 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e23234-0530-4ae9-a2da-33b1ea80b53d CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7b05348-fcca-4e77-b0b4-98c91103393b CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd491a6-a3ae-4516-96c9-525aaec90a6c CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05cc3776-a89c-4154-8dcf-4d5c3c81dc9d CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c128de-7e43-4d78-86dd-dbc93eb1991b CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 410d8c2f-7af6-4b92-bc31-760895f4af84 CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202466d3-2c59-439b-b507-4af5f084e55e CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67d3c850-f72a-4317-af40-8e1165605c4b CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc19a284-4315-474d-bed5-cdac41187bb5 CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 388bb654-b540-4d70-ab29-60eddbad3016 CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec744cd-1837-4621-9a5d-233536211572 CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 659cad19-be07-481c-960e-c3232b1855cd CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048332af-9d47-409d-95b0-ba4884ac5450 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07b6922a-3e69-41f8-aedb-6b210fa5d608 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a60480-7a04-45be-9a54-76ba32c89588 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11f713b9-9939-4323-bc0c-f105f9afe744 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb765634-91aa-43dc-8272-6416c80b35ff CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545954e4-dbd1-4285-bf4f-a1d8e9be6b9e CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b155a8-c71c-4348-a056-944db813e020 CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05ef7163-a6d7-4cc0-9fa5-8bbeba53c0c0 CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df76ebc7-a2aa-467c-b0f7-11506561a63a CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6440abd0-c2c9-45f8-83c5-2a08ebcfb153 CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61e43fa-c3e4-449f-8f30-34566889fe51 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 737a3820-3615-4968-8dcc-fb75bb482c10 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558ca622-0a23-4df4-88f9-84697839c280 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68301934-9da6-47b0-8c7c-b6da2e182629 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776b1a66-2a02-4705-aff8-fba0192bc7a9 CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eff02dc4-3942-49ef-9b2b-e5e53a70a88d CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f483b595-d430-4321-a275-24ca7cbf6926 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07c603a8-2b07-469d-a7ef-bbe9723c0b45 CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ca9f32-2473-4be0-8363-1a4c3a2540e1 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1e4293e-eeae-434f-8aee-3ee6f07f924e CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ecc76d3-a2cb-49e4-b81a-49e83d0efb04 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d86fa62-47cc-442c-9aa8-c83d0741aa24 CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9099429c-f312-4463-84d2-9fe599940799 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 646fdfe9-e979-4db4-a882-93bcc433020e CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2861122-063c-4de5-afbd-a033e000f4ce CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3244846c-1746-4456-935b-c4dd0648f808 CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f7b56a-21ea-427d-84c1-2f87aafc5a18 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 114121fc-f11e-45ae-917b-33487b62a1c3 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95a5a6c-81e6-4347-98a7-64c90f6396ab CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2a5d10f-d290-40eb-8c91-3e151babce06 CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3a6c5c-dc9f-4568-bb15-f4b073349087 CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67b603e2-82d0-4b71-acea-db55d3a39c9a CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1906d6-10a1-4ee5-8461-db1d53ac0c17 CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c46f33-db70-4953-adaf-a0944c1cff7f CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8a2520-447c-49aa-81f5-5779647cb712 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68f81d70-801a-4a33-8aa9-ac1c07d89404 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d15421f-e737-4481-a833-08e2781b6564 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d77b0216-e943-4346-9e49-fd5bb3cb141d CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df493fde-7a6d-417e-a58e-d680d57994e1 CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1451fa46-5bae-4b41-8f8e-0d10718891dd CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf12ea30-1ce0-4ecb-ab23-11a233e1d5af CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da30d4aa-3c0f-4bd6-b5cb-6ae87da01050 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06472ed2-b999-4df8-bb44-22c5c66f4892 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdf7df92-a7bb-4421-8a57-dd99282308f4 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b7a239-61d3-41af-902a-b4fcc236a732 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93cf8706-15de-427f-a3be-b98404541e12 CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ba2d3c-fcdc-4f53-ad95-b3505d33e142 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d271f3b0-a093-41b1-a291-24390083ddc4 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc864d4-c753-4000-9f43-f0b1eba689b7 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b4a9686-c730-4a2e-a76f-559b56d3aeef CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888a9c5e-a9e7-4b49-af94-68814dfd1c35 CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77a657c4-f12a-42ed-967c-95d47dc62030 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc891cba-79ec-4db8-9733-ed6c210ae758 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20c2394f-2a53-46c6-8b9a-43f24f7c731a CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8b7db5-d76e-45b3-bf51-272b3e0cc5ba CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2491d33e-c9ea-4746-bb1f-4d6f9c10acfc CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b254dd-62cf-498b-be90-f944d94e8fdb CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07f0292e-5e5f-49ed-bf3c-70008d5445d4 CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3405bf55-d662-4f3b-ab00-ba85461f9870 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4964159-f7a8-48b9-ac1f-df782803c220 CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2bd27bd-9cf1-4064-9711-ac6908bb3530 CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46975d85-cd61-4a30-9b56-1aeecb02174b CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4e9cc9-1f6e-456c-9aeb-73c1b142165f CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 605a1942-a30a-42d7-8ad2-025f5212a3e7 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2ba6aa-918b-42ae-9d8a-15411c0f2cf3 CLINVAR:2683726 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f85b3622-f29a-430b-8688-8144b8410ad5 CLINVAR:2683726 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a75212-cd22-4109-a4ce-6761ed16f19e CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb7c22da-2427-41cb-a14e-e73516a499f2 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ef37f7-ccff-425b-a205-6b00b53434d1 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aae70034-60bf-4199-9bb8-6eab37858930 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d186e05-ebb2-4e68-a051-e535e6102a48 CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1282c183-a8b9-4cfc-90a0-c9e9099e20f9 CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6258c6e9-d5af-4551-a532-264dd59b05c2 CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf317d13-fcbd-42a2-af96-b87c3a511b87 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a5d17c-15a0-449a-9c4b-708c65adba2d CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c170d68-0988-4674-bdc7-d719d4c97f29 CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d1b9b2-a324-49b1-a1ed-10b9e53b9915 CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c4c414a-c07a-4b27-b63c-ee2ec522010d CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0147b81b-3249-492e-a97d-ccc9d7012401 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 307f465c-86eb-4b0b-b0c3-33719a2ff744 CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73b7fb8-042b-44aa-800f-ddead55b5c46 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 405908d3-4096-4cb9-93df-eb963651d3cb CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0520ced8-e759-418f-95ee-bfec954af93d CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce0d2a9d-2258-4932-99a8-d9cfcd9c11cd CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5ba4af-95e4-4b7c-9b17-54873f355d80 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfc82213-1b26-47d8-8024-592b121fc882 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a228180-b9bc-4002-ab9a-380e911055d3 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89810e05-7455-49bb-ac19-743806be6dda CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918a2dd8-0cbe-4152-a28f-dc4c831ff35e CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2b345fe-9e7d-4ecc-9cda-3328e209627c CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 239dea73-5c03-4380-93ef-004b9f34a3a5 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c061781-4700-4873-bab9-915ea7ceed1a CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49348f6a-1721-4821-b27b-ae3ca5acd397 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 934c7bed-15b0-4608-9f49-26fa4a68f16e CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 524a5f17-2cdb-4445-80f1-adafea38e4a8 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f59f0dcf-0e39-4962-ba95-1415f83c2308 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99020374-1ca7-49cc-89d1-b60041a4bb09 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdbbe374-ecb1-47b4-98df-0a992185f01a CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5968b60c-ec73-4fbe-9e77-20568550fbc3 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 824ee601-74e2-47dc-8073-7ee8a41571d4 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edd13e4-4222-442f-bf74-3b1cec718a6d CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 594fe626-c47f-43e9-a3dd-d472de08c4b4 CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc86d14e-1e71-4637-a9cd-d34cbf9649dd CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e5325c-b5e9-4661-ae3c-3d5764afb44d CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9303ad5d-e2c3-445a-b9ed-d76ef395f620 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ed74cbe-6170-43cd-9b8e-341852ca896d CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d2434c-9639-4868-9665-2cfe56b75e7e CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9fbdf0-abb4-40aa-bc24-b4b3072c7122 CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd42351-bf8d-47d8-8fe9-2bf589a065d1 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa6cc959-fcac-4ed1-b4e5-01b6d4d45ff2 CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9107c223-5d6f-4720-8a19-a39510af4669 CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83b26869-62bb-47b2-b130-2776fab23adb CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d0fb1c-6e44-47fc-8727-c111251cced0 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 077ec8e7-d386-4f67-b56d-1719a3f99158 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6beff444-9fe3-4e35-ae04-cb02cf9f2630 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fdc6e75-3873-4a14-b064-63eba0266c6d CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1faf09-bd4e-4676-b66e-a6ce3e929aac CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86c21642-a343-4314-a349-c9f9940022f2 CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2530accc-4c71-4b6d-bfd3-f5e10b75c672 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 651e8bde-39a1-4b65-b1a7-f4f894e8b770 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7646f5-b789-48ae-8175-49c015473e18 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e33c589b-de9c-4c38-afdb-e4efde925c26 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab8328f-2f35-4c3d-af2a-9668cff325bf CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f855b0b9-a6ab-4cce-a015-dd30866fa122 CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aedfbcea-fe7a-4cbc-a200-e9592cd54ddb CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92686bbd-c37e-4d3e-8a04-f9f050adb2ef CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3691fd17-b5ea-4581-9b09-cb8295aae049 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f85f551-4e96-4bd6-906c-a648ee3b3396 CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2101fc7-b50a-4204-a217-ef223c8a7bde CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29aeb86d-30c5-4247-88f3-39ce5fbac9e4 CLINVAR:2683727 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6743fff0-f6b6-48d4-950b-5e1eb48728b1 CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97a4764b-0b2e-430d-8713-f0f82f0a41b5 CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a771cb9-147a-445b-bc66-08dcae1f7e88 CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 681bad02-3e06-4b7b-a757-5073a84f79b0 CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05fe9d4-fcc5-4cb6-8c29-e30722a5ac0a CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 175193d2-31a3-4597-a404-6edfe7349087 CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438f15c7-5b17-4b93-a9da-354ea37b27a1 CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1e61953-c51e-43b5-b66d-1f7aad6561ad CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e5e8d4-3215-4890-b4fd-2d149d2f619f CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6905d845-fb29-42ca-9d48-7a1897b74bd7 CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0642e0af-97f7-46d6-8de0-72ac5f8450eb CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aa26852-5927-40bb-8a37-7079a0e1b18a CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69d2a9d-89a0-459e-9b7c-acff4c6edacd CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 567f2bde-e925-430c-95ca-b3424bad799f CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b806a6-ac44-4d1d-aa46-9214abd2b567 CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da861427-1f8f-4dd8-9f95-140e3ceb103f CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ece5ab1-6d0c-4a13-9d8f-201b1c656f13 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a479b04a-4de5-41b8-b87b-55441987b5d5 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad272b1-2f97-49cd-85c9-909415ebdfd1 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c5015fb-d16b-494b-9cc5-74dc9b06c86c CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3efdc4e-aaeb-4c7b-9b0c-ce90d1c6ac4a CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b6e7acd-f17b-41bf-b026-6b781113c325 CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d9a0c0-8fa5-45be-9c2a-739a50058af9 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84d92d05-fc37-4c41-867d-9baddf9165fe CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89fd378-3f53-4603-b592-0cda1d36dd13 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d69f114-2848-45de-9520-226511fb7549 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f7fb5d-57a0-4ccb-b3b6-da52ca8d627c CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4ad0a66-5488-407a-8539-2b621547b78f CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331a21e8-89df-4f95-b51c-6cd5201791ee CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27ad514a-185e-4bd3-a944-84040475adfc CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f767d982-d222-4c5a-994d-7a75d02c67f9 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13114ef1-0631-4de8-8ef4-9ec9b0491b25 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bed834-bc97-47c4-b876-e969e621db2f CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31b622a4-a1c4-4fc7-922f-47099255bf43 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea213f00-0c2d-40dd-a5c0-8db0bf087083 CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac78ce7d-8369-4b85-90ee-5f05a8cabd1d CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4415ac86-7619-4d61-9502-c879dd641549 CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9d1129-239a-4afe-b866-183112249076 CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da96846-b391-444e-9a2d-feccba618ff9 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fa615d6-b58b-4d52-a3c8-89d0c43224a6 CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f622bd2c-4899-4685-99b7-efe4f3445a8e CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66767641-3a17-485e-a04e-8151b4575af8 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf5fe75-6f18-43a2-af0c-c06cd340344b CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74e0fb2a-5195-41ac-ace3-e0d065cfcb32 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec36738-92f3-4183-988b-42a5f3455528 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 649aee25-cd33-48e3-8ed8-868235c4c3b4 CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccedb2e2-9ad2-4cd5-af67-d819f0511790 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c95efb0-3799-4d95-abf4-8edf211afdea CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ab90d4-2fd4-4e5f-979d-24847ff4dd6e CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen deb5f5ba-1ff0-449b-b4f8-2c66ef3d4143 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f572fb9-b7b3-4c3a-bf48-47b9d01836de CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c99b7fe9-19ae-49cb-b3a2-d841f88d1300 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240a6685-504d-478b-85d1-d99d827babc9 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eba1bad-75b0-471a-87f5-68a45c2c4ac9 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b06fec-5bf1-4158-af65-0efa6da7fb89 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3410b7bf-b211-4400-8154-0d218e250b11 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e3b0d0-94bb-40d0-8d9e-f4e3a06db37b CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa0dabf5-5848-4237-a3de-e523adb0cbe8 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b42af3-d063-4b13-88ec-aeaff1d0421b CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6343868-d055-40a1-8014-64c70765e0dc CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ce7429-7668-45ee-ad99-4787d4b93d0f CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17fadb51-5386-4268-b5a3-a7340e54bb62 CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b94a712-f7f3-455a-951a-4af1bd122da0 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e272b92c-71b3-4402-abbf-21c5312dc71d CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1aff72-fcae-4f61-a7e1-ba0764df394c CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82e2d141-436e-40d3-89af-cc21e0c2d719 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63135ee3-de90-4b8c-aaae-81e57b8ecca3 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44e69740-0096-4835-aab2-ffd42f9670f7 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75534b3a-cca1-4cbc-ab6e-2930535ba57d CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1f38ac2-4916-4859-8886-83824ec17e26 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b7a66f-285b-4bc0-8883-485ec6e48e72 CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ba37b9b-0899-4f8b-8500-deb813b3f531 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77429fd2-9319-4ebd-b4aa-0e1c77a72fbf CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aef1eda-f237-49f6-a7a7-e364f81ada37 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a56c32-1210-4286-93f7-1f99cdd26276 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0c1978d-9c58-4202-a915-c3e9ffab4b63 CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac6b43f-6f3c-4f84-ba90-a3d1f93ed6e0 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 509127e0-79b0-4c19-968a-012d726b7686 CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923ab2df-eca7-4ed4-9e20-680445060d8c CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ad8238a-023a-4e9f-bc7b-8f51f539098c CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8beec294-1d26-4d52-9f19-f33089a86ba2 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 072855c5-8f5a-4f62-b200-0f8d88ab06f7 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011da288-b8bf-4d96-a740-96ee7978fb89 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8198b846-c92e-46b6-a237-5d7fca513dd6 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3183509-8c7f-4092-83ce-30b3d49bfce9 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fb951a3-3d1c-4080-8488-9e6bcebd1e8a CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1705c7a1-9081-4a02-9fc2-9d872fa98643 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 004f5108-62b3-4842-af67-5e556ff54ad3 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddba14f-ff76-4064-90df-002c28a46fb4 CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fd92cd3-257a-4eda-89eb-84e4992493e7 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7affad-20ee-4e89-afaf-06f0def65b04 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 456bfcb3-23ac-42ce-adbe-f8b73422c021 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b86c8dc-f81b-48ad-b95e-6cb537c5b27d CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5056eb2-43cb-4380-8cb5-1be2cd207b18 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45ed230-c114-4918-9fe8-9e18d83a3c4a CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59fe25dc-a630-40e5-a0b6-550f7287fa59 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16ff4d9-fd92-4b6b-829d-2e8d1d8bb435 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb04be16-8830-4c5e-92cd-eed25d281766 CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2abbe0-92a1-4a47-8b63-b0169c489c0a CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 754ec3b8-1e61-4757-b2d2-9bbba8392b4a CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b3204a-f03c-493b-a02c-34b741f32872 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59ffdf94-3ef6-4509-a8db-271944c4a113 CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 009da8b7-4681-4117-81d1-c096e08546ee CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42e31a4a-997d-4528-9762-5cca3c620e1a CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15bcea1-aac6-4f4b-97e9-a3b99939807b CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0173de07-653e-49ef-abc4-3052939132a7 CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f369f751-3ccd-4ddb-96b6-bf269e8a9b6a CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c101599-2860-4aa9-a7ae-3297d73ccd78 CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fec21ef-1b09-4be1-83ca-bc4c3603b4e6 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5170329-c3e1-4f36-a296-debaf23a6ab7 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bddeb1cc-e806-4b0c-906b-4700d8f30025 CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e55b6dd-43a3-483e-8234-8b50c52ead9a CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a7ee40-d537-4d21-94f3-4d8b5fff2bf1 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 101282e0-495e-469a-a89c-6c7988ba21ee CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98b5966-8bf0-4155-9ee6-57f7c9f75d66 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bbc3013-8994-4b3a-8d3c-e83223e2f525 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 620baf34-2249-455d-9c6b-0d4d1c5e48f4 CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e144800-4994-49ea-b2fd-92fe65ee5d95 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc97045-95c8-49c8-b1e2-d2061d2c487b CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed8072be-b29b-48b0-996a-2bc10e716725 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30fa7aaa-f573-41eb-80bb-0c7407bb3a0d CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c389818d-89c3-4cc4-9c37-46a48d0241ff CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc068874-c456-48a0-aec5-bffc5f51610b CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed5a5228-1053-48d5-9d91-c74896375a8e CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4921d092-ef88-44e7-9984-771ea5224cd0 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cb583ed-6bea-45dc-9a89-b50d18d33219 CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e764cc-0caa-4c8d-b4ee-1c345c9df3a8 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b74d8b4d-1b31-4c88-9426-714cb5165e1a CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd01b9cb-b795-461a-a729-7ca05297c0b1 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 995b46a3-d857-4cdd-a30d-698d6067d0c7 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0adfdde3-5f8d-4804-9aff-022035f0e95c CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a0e4552-653b-4bba-a77a-bd6f89399751 CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e54730-9eca-488f-9ba2-357b5febadd4 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f74da8a-0a6f-4daa-8402-6e5e89ca4168 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9179d227-b6f0-4410-8510-99903d4bfb56 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd84490e-e040-43a1-8ac0-c93d9dd55f8e CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c01f99-64f3-4a20-a495-154fa7124288 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af826043-b72b-44d9-bb66-a399bcd16798 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b86924e-249a-4668-9c62-7800d2cf04e1 CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 784e5197-4181-4ba5-b37b-a5320f73a0ee CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9d7103-2ecd-4ecf-b038-b28db0f08550 CLINVAR:690455 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80620bad-8adf-4d4e-9921-20333b506347 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ac2423-ed2e-4c5c-b0b3-f67efbd08c04 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7e8317e-c3c3-4b55-8165-21f0e71c2795 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d62e84e-f738-40db-a0bc-bf6f52373983 CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 907bc50b-1c2f-4fc7-ac30-1fb1760a09cf CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b0bd6a-e737-471b-b078-7b9b3f94cbfd CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec144d73-d35f-4ae5-af38-513dd8761c7b CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3782f7-67da-4dc8-9927-5c2a2cf228b8 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8a3e8a-4b0a-4248-92f4-dfea54cfdc7f CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121e4fe4-b994-41f0-8f46-e6b39786718f CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e53de06-d615-4323-b49e-7d4e982c610d CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8a2fc8-8150-43ec-9306-5c843963866c CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5f0c09e-dbd3-4f0b-9136-b2a1770a9588 CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90305783-38ee-4d3f-923b-e11ecde9ebf9 CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9903a29c-a3fa-46f8-ab9b-ea936847457a CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63723dd1-0844-44eb-a8a6-6bca28798216 CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f9f256b-6394-4b96-927e-6f5b3f4ed597 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7570933-5e5c-4cf9-8f14-5494e3ac979e CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 128c1fd4-016d-4eba-adc0-05203e7714bf CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4c8200-8795-4aea-a11f-dc58309fb776 CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcd12388-c6a8-4fc5-9907-bf365cfe1add CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715720c9-d94d-410b-b79d-c006423dadba CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bf0235b-0e80-4c49-8cd1-8891a2d989e1 CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2597c66-e98d-4976-87aa-299df0a6bcef CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5889c77-6e6f-43b1-a8f8-521c14de81ba CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33bf6b6-1d2e-452a-8ba1-5e88070ad61d CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31246af6-1dfc-439d-aed0-051cbc0873b3 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725dc361-0991-44f8-872d-ef423b88b76d CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26571b31-7196-4a91-8992-ea0e355a2a7c CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16282644-b20f-4e90-bb58-8b942c38b520 CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 823edfa3-bad9-4e6c-90bd-c2aa52b4c887 CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df674977-3841-4bc2-bbd6-d6dd326cbbe9 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 881e9345-21b4-4f6e-b1b0-ee8365537f13 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b527410f-32ee-4451-880c-3b82c08030e7 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b84c0a7-173d-41a4-87f9-5189928ca816 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2f1c5d-337c-4345-baf5-bd49a9f388b3 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5ca4f50-6259-40a4-a636-0b92e86e546a CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e01c78c-a701-47bb-8866-b3c84736df63 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10ab1f44-9419-4821-8ec9-2ca33559769b CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbb5ef5-1740-4e4d-ad48-7a35fc626cc2 CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0971c98-35f1-41b1-9e4e-1ca8dec83fe8 CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959e1df7-7e84-4fd5-ac0a-840fa42df060 CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a813cd4-c7fc-4ce5-851d-98c0cef18246 CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ac0a5d-3503-47e6-80d9-39c865c79017 CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d79688d3-c28d-4a48-ae91-935452457931 CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770f07ac-e50a-4ad8-9f43-28cd5ccbbd88 CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen babdb3a1-9031-4a1f-bb81-8a273f0948db CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9b93c0-8c59-4cf7-8cf1-d34b723e8e2d CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09c90680-a4dd-4d97-9a55-05a60df7b52f CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4deb7da3-57be-44f4-89fe-97d83460934e CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59f9b378-4047-4b0a-a023-96db405533bb CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30bc5b4-f2e6-40f7-a290-8dc34f090341 CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 452ce0a3-81a4-449d-8031-03ee673f72a4 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e81aa02-d7fc-460c-b00b-337c8713a0b6 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61a5dfe7-843d-4f9c-8441-d996c011f6d6 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a4cd09-ad4a-4b2c-9595-166198bac617 CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47f963b4-989e-4113-9738-44e732e56f5a CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c164eed2-9b2b-4ff3-a614-11f61776baee CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ca98a4-fc07-4e16-af87-e8375b71c110 CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b800d9-763d-4274-99ca-2a4890029493 CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 305cbbff-1e51-4e67-b61f-106a6f8f3aef CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efeee679-9836-4874-b850-9d631add23dd CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddf64fd4-0882-4189-bb02-0d021f578b3b CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41296c7-b0ec-4244-8f87-7ce8cd630611 CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 291063af-ecac-48e7-a145-57aa5cbb970e CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3f3816-a2e7-4262-9e32-727296846187 CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14a2c19f-c879-411e-b4f7-b3b42aa13937 CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008467ea-4901-4bee-b8eb-599a82f41299 CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b5d7a38-75bd-44c3-9070-c7a6402c59c4 CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fc2d4a-d44a-46db-a575-1c808b528c0e CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4144df7c-c1fb-4e96-824e-50606e8e1c87 CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d794f56d-abac-4657-a508-e416992c955e CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c39f3a9c-3a5e-4d73-8916-e4797705a092 CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a326839d-081f-4938-91d6-4d1f5baf851e CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74f9c9ef-899b-4bce-b4fb-1f3f4cb219ce CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533a7739-dfcc-4187-9a4e-3de1b2ed2093 CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91c74dd9-0e45-4891-bc95-73215bf30d2f CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 093690fc-339d-40e6-9b38-077a090f1ce4 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b5e7e81-4996-4c94-ae46-0e4adc7b9e06 CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86015118-c289-47b4-83d9-bb6cade55373 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e4ac404-9fdb-431f-baef-414458ba2869 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5dd4fbe-7d4d-42af-815a-75288d00d1e9 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3458e5d6-1126-40fa-806b-d92d24c4a980 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff796ee-d045-4b19-b6aa-d82acd0d8282 CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8866273a-03a2-4570-b548-517a9ba25591 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c31252-0311-48b8-9b68-edab93354401 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 861dcb0e-50e1-4623-868e-1e7e77a43d1b CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e3fa40-5a85-4c1b-8f8e-f5cb30f4e3ed CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecf9f4df-282c-4dc9-82b2-a9ed31ba0bab CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0888df97-aa82-45fc-8ad9-55907dd109fe CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edc3c61c-2de1-491a-9e81-53ca2a1c6e7e CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa85af8-8226-4765-b698-77f242d2f752 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12f857b7-4dad-479e-9239-5237b4690ccd CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad5a0cb-2b13-478b-aea5-010c766712aa CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57d0e235-df80-44b9-ae8c-25be36f17ff3 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7211f40c-35b6-432d-ae6d-33c25b9462bf CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40a80d93-49a1-4ddb-b554-13291bc4a586 CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bca1471-3411-4747-8de9-3b625099ce63 CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27aa7249-a352-48f7-9b47-5c2ec6169a3d CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f80791f-dd4e-403d-b770-64bad5005f29 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a73cb22e-46d2-43a5-97ca-8a281e4eef5b CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61239401-4c99-4b0f-9827-bfe4f0c6e2d4 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b0f4ba4-0127-4e7e-8daf-ad35b7d2fb2e CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505c92aa-c62f-4f62-bf77-c557abb757a3 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fdb056f-9ae3-4a36-8267-00ef341a72ad CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930f53e1-5bb7-4886-a867-b8df30c9f788 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cab9bc80-7085-49fa-a486-45ca4b7a1841 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8b06d1-3075-4a85-96f3-bf0ed390927f CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 303dfc68-7536-4a3d-b535-bb98ca8b066b CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f926af4-4ac0-4fa4-a10a-2d14afc20245 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5c523f-92ba-4a63-bb6f-9d9a72765adb CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624629bd-4232-4f41-9efe-2405537e3149 CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54398e7f-1111-4415-b023-8ddc25475e0f CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2023bb-b41f-4d31-84cd-56113eb65051 CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d810833c-2b10-4f29-8445-9f641780904c CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869dd459-62d6-4855-a689-3a6736753176 CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4622845-c106-4ea8-9021-9e8356189bca CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7f71a6-b2f9-42e6-bc92-4aa816eff844 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78ccae73-9bfe-4380-b5c4-1025dee9e713 CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deadbba8-f02c-4757-8711-cde9d7e62e4a CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7a2a7a2-0c5d-4906-a669-bb682297c8a0 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0802cd-e7fc-4fe7-a887-94bd0c8207ba CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36c9b48d-b14c-4e79-895d-be2f2a9cc44f CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 069956d9-b699-4356-8da9-b6ec33615367 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf499af4-b247-4569-9d16-db659cb4ba84 CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4cc45a-6db5-4892-bf64-8754fc286d87 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9f53cda-29f1-492a-ac97-8081f7919f3b CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2546e5bc-42a2-4e7a-8784-25b152015bbb CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58d7ff6c-609f-482c-b376-d7cb7290fded CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01216bbe-0dbe-46f1-8d1c-9c43c3651210 CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 932b9441-09fa-4258-9e5b-6dd1bdb7377f CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb43cbd-58e0-43ec-9d79-0372ecd54df6 CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8613985-68e8-4c13-93a8-063d1576979e CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59373fc-3d2c-43c0-a25c-85c146040bc5 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df998570-c119-4a86-9d1f-518adbed52b1 CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc41c7b-6e89-461a-ac28-ba222099f375 CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b80713b9-79c3-426c-981e-4fbeb1f34786 CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b54f32-c62e-4a18-b12c-7863ed5b7a0e CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15bddca3-2612-454f-be8a-2c609b0fc48a CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2467d826-efd5-456a-b324-3f45b9d41ff3 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 558fdac1-2ff7-4ea3-b0eb-c55307479776 CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d96919-c646-482d-bfea-678ad82c53dc CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4eb5b6d-b516-4a5e-b176-ed6424cdf414 CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7158b04-36b8-4d9c-ba9c-35a4e15760f5 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef7e4c63-2e88-4afb-9136-4f9da930a1b4 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0bc6cb-6e42-4b5a-acd3-76b5ea066cef CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 597bc19a-a277-4e71-80ad-a7e75f2abff5 CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd443da-d7d0-455a-8bfd-fb5e6de9537b CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 714e9b2a-8cc0-40f7-bada-e85f78de8cc2 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80f5656-3a0f-4d26-9088-87a4e3ec4ecd CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9393c66f-ebea-4df5-a967-18048256f09c CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42c6af1-5b0a-437a-9d31-3bb4fccc3e12 CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c030176e-3775-49bd-a85d-e79dbed279e6 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3a0410-6e0b-45f1-845f-94ccfbc91834 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1ad4b42-87fe-42d8-b20e-9f455dc3009e CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3dfd1f-3c1f-483f-833e-f27412e83197 CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6c0dc38-2002-4d85-a5d0-d45a960a72ff CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0fa8ac-a565-4962-996d-8bcbae5f76ac CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28d94ab3-2a1d-46d1-8dd8-d1f8c88debda CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fd7dd2-7c67-44c5-8f38-3235a6ca4607 CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b5b32ae-bd2c-4453-b724-0124dbf33faa CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0450ad1d-ace7-4c4b-8f3d-3b3e7b1243d4 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0443b284-d267-4475-b7af-bc6ceaa414ca CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b279a618-ad32-4959-9d71-760e29aaef07 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b2bffa2-7af7-47a1-8c90-2a24f93524d8 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad87db4-017a-42c7-ae0a-59baaa691a5a CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a96021b4-cac6-4a19-a4f5-bb8b24b40627 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03a2e14-e60e-4c98-ab9d-46f671f82087 CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64367377-1a5c-421d-891e-ba7a0b7537f5 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d385126-1abd-41e9-bcae-a27b5b09edd9 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab79c903-483d-4fca-9704-e9e059689370 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321143ac-4958-4261-8015-15968cc3ab6e CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcdbf8fd-6a15-4dbd-83bb-bef2c4169895 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa96ccf2-d3ef-4c41-af02-844ba48f2ff1 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49c44366-11cb-49b9-98c1-b79f08a2fcfc CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac87b195-048b-4391-a686-2f43b3811180 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb0379f4-d76a-4370-ac62-f7b5502d2271 CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525e8dcb-d57e-4835-a9c9-9cf8a38bbecc CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48ec6c0a-ab29-4582-b97b-0fdcbed21f2b CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3deda226-df23-4d96-a024-a584c7b7229b CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a035668a-a6df-49e0-b19e-f2ed3306e97e CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb298ac0-b2a9-4d69-8fa9-5b44809d378c CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c79f041-7249-4a8c-8f43-8ffdb942c2aa CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c3aba8-1798-40d7-96bf-cfbe739f28ad CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5982ca56-df89-4c80-92e9-37b574e46c1d CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80fad2fd-9bcd-419a-a9a7-6f59a4d0ad13 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3abc46b-67c5-4570-9621-df337313d4a3 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4fe898-e7bd-4a6e-a855-5b3155bcc290 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04cc218f-748e-4a82-99df-61395dceb3b8 CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e25675a-dc2b-4e2a-9ef1-1c4c479d9ed3 CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8a68ed5-a73d-479b-8c78-cd563dd950b9 CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7231cdc-1ded-48ad-9d8b-415945a814e0 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a33a8aa-339c-4733-8af2-a9dbf3e42f9a CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d58b8d-f428-435e-9a17-9db58b30aa7d CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0e1dd43-00f0-4de2-b35f-3abbae147585 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26286cc-8842-4811-96f8-d2a694ff0523 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9085d952-cf3e-43fa-8359-22f2493019ab CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3b3e4a-074d-4fbe-b7c0-915d6f9e0626 CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54b4d7a2-5251-48be-b7ca-d9f0114e803b CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d1c6ce-0744-48e6-a560-4edb1d33a555 CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a17e17-340a-404c-8bbc-071d785afdb2 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c252955-c39b-4075-a51a-4366dffb9964 CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ed0a664-8370-48e2-be32-c4f8be421c9c CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5d75bf-65ee-41cd-b622-901e255c6fe8 CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e31a3c8-2d31-4e54-abba-1eb0eea1407b CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0434ba5b-f8f2-476a-a748-078b3eb39b50 CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6eed768-d705-472c-bb67-34c54ceac9cf CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bf7b54-b00b-4104-a8d5-2a09f21cf436 CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1549203-2e01-41c5-ad2c-1304090a40fd CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ff8f6d-11d9-445d-a833-c0e9303a2cdd CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d3e4534-6853-4d28-9c99-c3afcf9a8744 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbecc37-e82d-44da-8059-57f7e4964ac0 CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51fdb5e6-2352-4ad8-9d53-822f94445ac3 CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18b3516-548a-457a-9376-1df2888ad3b9 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74f29ef2-1341-4abc-8daa-abaa07aa0b86 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db8003e-7ebe-421d-826c-86196b600392 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdbd0d0d-1a03-4032-9a14-3717d6093760 CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4572c2-fd2d-4cd8-82f9-6a8894e9f7e2 CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7de193c2-74fb-4d00-b01f-e9799f20891a CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7a8f8b-c098-419f-ae5e-b99f63e1b4ce CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d500217c-1add-4544-a0ae-02b2d70e151e CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a79d4c4-79aa-46b1-a57d-505534d0ea22 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3069767-784e-4654-8eb5-b4b7f3221bf2 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627f62ba-5fe5-43e3-992a-d93149a29496 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f2167b0-853e-4675-8f28-e24a131fadd3 CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7e9734-8100-49db-9dce-b8d0991ac8f6 CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db0ec566-b022-4b8b-ab2c-ceb30936ef68 CLINVAR:2683736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5114bd3-d643-43dc-b868-96ab84cd2259 CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61161fd3-b7bd-4da8-a1ec-8f3782f5082e CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa83229f-958b-4340-a52c-d650b0af3ee8 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fc100c5-9957-4951-8675-8247a2a1924d CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5de968e-67ac-4a61-913b-514272d9d64d CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52845d09-1b35-46ec-8dfd-455822b5b5b9 CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c37c221-f720-4be9-8dce-6255bafed41a CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 728547f3-46df-44e7-8cb2-a1e02ce419a8 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0054c2e9-47dc-4b27-b035-25eeea4aaf7d CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d1c566d-67f3-4064-83c0-9712de73e838 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588826b2-6b48-4f35-a37b-d2183621eac4 CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1030a8f7-a717-4ed3-b7ba-aeac504166b9 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf099be-ece6-4042-b576-b3fa860ec6dc CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 371d02c5-6288-4758-b57b-d5d62ea0e0c1 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0913c95d-ce14-42e3-a5fa-eb7d798cf3cc CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0742a1b8-2425-4384-8000-1258f5a326b2 CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8912e8f-9653-4514-b3a1-40e2e643b51d CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c290b05-8b2e-493c-80df-1519eb497d27 CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689fc32d-b915-4e51-abe3-6b44581c9075 CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd193cf-066c-4bbe-941b-0d1b0cf91b26 CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1567e42-09eb-4b36-aa26-190263a71fe6 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 714ee233-ecb0-45db-a03b-859dc4e64e58 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cebacb-fa1f-47e9-bcab-dc7be5fcf308 CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84d7176a-3e40-49e1-95a4-d68e5ced3aa7 CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b888458-9c78-4ea5-9809-64db75fad629 CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27af41d1-6a7e-4094-ae6e-2ce7d6fda433 CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3e0afa-3adf-45f0-a306-88714b4e5365 CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 200650d9-abda-45a4-a0bb-328740a7d67b CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3bdc27-6032-48b6-ad96-5e55d178be74 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40878422-3d24-41cf-b5a1-48356c3cded3 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11a98a9-2f2e-472e-879e-61890f601c0f CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54c47841-6c38-4e2e-be44-da8d1a514dd0 CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c13cd3-6ff7-4bf4-883e-7690345b5293 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be70d9ad-5d60-4a59-8daa-0a57325cc604 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f61c25-980d-49d2-b27a-1975b950975a CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 648f43e7-64fc-4b31-82f8-13d155109e39 CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf6c914-753e-4c2a-aeb0-cde187a9ca7e CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e642e03-b3a4-4ce5-9678-0fc926c30eac CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f19324a-1e49-45c2-b43b-2cef9fb82e60 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897265ed-aad8-4f47-a8f3-9629e14ff16a CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cc6a2d-0b44-45b0-b7ec-8f7a4a4ab028 CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b207adbc-eb19-4dd6-9498-13e97ac3192a CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8c8871-2edc-4f19-b0e0-6a2eab6ded53 CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6917d47-8b10-4a85-b849-bdb34b01511e CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8fff64-1333-40a9-b1bd-b6f1008a4242 CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d70e235-661f-456f-b3d6-92c96c8a3f96 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e61090-0319-4b90-8fdb-e88bf1ea29f1 CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2d78c3f-8907-479e-af4a-dbf4f7ffd422 CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb43f81-30a2-4ffb-82fc-a27edc727d60 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1010519b-11bc-4d4b-8f25-6a87f8dcb58a CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3732a10b-af3f-460e-afbf-73008aa8094a CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dd0f8c2-e00d-4f89-a0bb-a37ae0eb29de CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004ce68c-7b02-42ca-8fcf-e060d0d92e6f CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61f6c228-448f-49b4-9c7f-073d93f99a3f CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abaa109a-8457-45db-9fde-fefb54171b5a CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d83dd18-f628-453e-834c-4c2b852c1e3b CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59464a6d-f57a-46a5-bc34-06c9548a16cd CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ca8981-0d11-48b7-a952-81b50cd32665 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668d6a79-4860-43ba-8f78-60e5d98197bb CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db90f8f0-080b-4aab-a4e5-337c2ee37c31 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91933c56-c682-4ad8-b2ec-8c5beb20bdab CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c84f8a02-7702-4adb-8c7c-1178b37abc26 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 634675ca-2b57-4940-92b6-d6cc9df94161 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddda83bf-6ad0-440c-b19e-ea14efb099e8 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7810d66-e2d8-4867-9136-b35316ac11c0 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c304d2-3b3c-4bd0-9d21-4c598cfdb69e CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe7917b-801b-4c69-bc81-9c675712f62b CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fec71288-1ef4-49d6-a4d6-5cbf9a7715e5 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed16092-6d4b-4476-9a0f-6465abf1b950 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf4a997d-a421-47c0-a185-60bdf8154b9d CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc1043b-2d8a-4578-89e9-ffa6e3ba95e8 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0a4941c-94c3-46bb-bd3d-1523caae407a CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7cef933-4a67-4486-b3b7-7fe6e434ea26 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ee82b9b-b61d-45e8-a8c4-7929a10d2698 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579bcad0-2eb7-4c9c-8925-f49c9f3788f8 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 316f7246-8dae-49d4-a177-ab782ac8c487 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df8744c-7863-472a-b4d8-4b089a05fc54 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2cfd829-cc7b-4d53-9cfd-f65cf5ebfc71 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df9a535-cc5f-4374-b515-6de9cfdd9b04 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cae8775-6129-4069-a358-297121a12ee9 CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81538a54-f396-4c7b-8b23-72f67a6130b4 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6946d27b-7bc4-4a0c-a18c-01968e4303f1 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666ef887-1fac-477c-a527-95c960b744cf CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6e52a5-cd33-4ae9-9f47-65c70bcb4c57 CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 568c8c28-78d7-49e2-a04a-47433132f780 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92912a88-cd4f-44b5-a88d-deecdea7cf02 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fcaaea3-2f54-4ebc-aa23-3d5005c2f443 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7801c9df-f6e6-4341-a4d1-ca4c967d0a9a CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bb7787-68e2-4644-aa95-40ebdae8515f CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da9563b6-962d-477b-a41a-49fe54a911ff CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b884aab1-bd2f-4e6f-bd26-8776d67b7549 CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a3a2b80-80ff-4167-86db-bde769859aa1 CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc78ab15-77a2-4328-86c7-e92859ff8b95 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac6a846a-e554-455a-b342-df811330884e CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0425f1-fe4e-4765-9c88-04031ccc72b1 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18b930ca-b362-4fe5-b285-bd1e0aefe5b5 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a471adf9-b1a9-4802-8586-e07c46678f57 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 626823c3-0f3b-4b45-8fdf-584b0b60d682 CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a848c5b-0c14-41fa-93be-395cc0e1af8f CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10869d2e-0aed-4fbe-9a5e-b9fcb7a191c1 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06db2478-bc32-4a79-8501-3910bf8a0e82 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d0917c5-90e7-4fe7-8991-ea0274fdaa38 CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05e00c4-1188-4b6a-8939-5f5d1767f8de CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c35b7fa-e8e1-4a70-8451-569e8fd7e06c CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e145fdab-15fe-4a8d-9051-63804287be15 CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a5bdb3-ea29-4d90-9cf2-96ece2bd9c7a CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fd3cee-4de2-4fb0-aff0-7a1ec9f45c71 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d89b97e-2100-45a5-9fee-55f30098eadb CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3deeb6ee-11ec-4e19-9c14-99bf451883a2 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd53468c-6f79-4b00-a1aa-aba0faae6c82 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42708bf7-9889-4a43-8d81-681cb2a20792 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bad1275-57c0-4933-b5b3-568213a9b33c CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cc849e-a873-4e3a-8552-3bacd456c5db CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9b4692f-088d-4ca6-9079-f3291a91482e CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd79c3e-d89a-438c-9073-35da5c85e387 CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d735648e-028a-4ac5-b276-5a28cffc77f8 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6675949-a877-4f63-9a0f-1c12d1e96375 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de15236-2f75-46ec-8399-27d8aaad717b CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3067cf63-dece-453e-8663-3939d0a00d7a CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23a8e27d-4580-4d39-b66e-2e5def591125 CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d26d088-64d1-4ed9-a98e-e1fb4c6f3cab CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 981319e8-1c02-4372-8c85-3d4c604d8a6f CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93db624-45fa-41f6-aa7d-035b1e031f0a CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83bf40c1-65e0-411f-9310-6534f3755708 CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a39a059-c751-43b9-ae58-734e7a466a6f CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 372cb800-64b8-493a-be63-477d211c2631 CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d70d3f-8d12-4c32-914d-ff22cb7551c5 CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5a3f7c7-5e05-47d8-a0fb-83d57b8a7ad5 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a0039e-3b3e-4b21-9b0e-b57c34760651 CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3d8e32e-df1c-48da-aca3-8b62aeb1dbd1 CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90902552-ef50-472b-960a-e961afbc0990 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cb8ab63-b912-4ed4-92dc-922ffadae673 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18aeaf1f-2eb3-4c81-8d88-2f0b1218129f CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dbb3556-a63b-4223-86ea-c67b69a7a7b4 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a229fb-a9f9-4d7f-988c-ea7feb1770d6 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 403c1de3-eadd-4b52-ad6d-112a956c128e CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d133cb-a66a-4a95-9835-f3132af64c47 CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ae956be-47ab-4123-a9ea-a61c6c1a1e9b CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcce4bd-d6cd-465b-862e-6e1bc2cbabb2 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29beefd4-8efb-44e4-81c3-7cbe86bc4b59 CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9171a622-6fea-4e44-b3d6-a800d12e7186 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbf05fcc-0ddb-4ed6-ad00-cfc184bd085f CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20dd1430-e12b-4991-bba3-e6bc0c6dce72 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6844a05-fad6-4e55-bc7d-7f942405bdf4 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0357cb4e-4ec0-4848-b17c-8a6e58c56d98 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1d0955f-d646-4a58-ad61-8396d12b1f9d CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ddbd65-622e-42b5-89cd-e806f5f4941e CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 609e6f15-4a28-428b-b0d5-37aaf6ad9f12 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8620335-8456-4f69-934f-ea9b24410af9 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11e3ae79-de52-4201-9b87-4c42f6d72e16 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4108d97e-8fb2-44ee-b0ba-e327d9b9eb78 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a4abd84-0971-43b2-82a9-4665989f642e CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc1e949-b55d-4d83-831c-985d16e97906 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c583cfcb-062e-432d-987a-a84493c7af31 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d8a2ab-a425-4a54-ba69-71fcd01e0b9c CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e21e30ea-8062-429f-841c-960e34542880 CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686d7927-84ab-4384-a5de-326b0889bad9 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10e95825-315f-415f-88a4-74699954ddea CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e852c885-14a1-4d6d-9b7f-7d9ac184b584 CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c6406d2-662a-4cc8-8660-d434389c3c8c CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f0dbe8-0b33-47d6-8a72-f9452164cf33 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd1cf80b-c04f-4a89-a230-bc7ff6c09f86 CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c7d5a4-20e7-43b8-a7b8-8f23d3c17700 CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 706256a2-c0f9-4076-9e48-86bf31e87dd7 CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defd723c-eb6f-41e0-bb42-e98ca182bb56 CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca420aea-7348-42bb-8cee-93bdbe57022b CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87bf743b-7f49-4e57-b95b-594c6adb3224 CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 619c7b6f-8771-40c7-8609-b15e699025d0 CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f050b2c5-2022-4aaf-8423-cce7f07a14dd CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e6d40d2-d230-41d0-b48b-bb8f11ac53af CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2dd2f1-6f35-4530-83b1-74d171ce6875 CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48e15bb6-bf60-44d1-bcec-c3a307571cc8 CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa5f1fb-ced5-41f8-8fa9-a94f3733043d CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fa5080f-128f-4efe-88d7-88f25af13b48 CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e521590e-ce7a-48fc-89d2-48d8478a0146 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ceee861-123e-4764-aa2f-3bf13b71d4d0 CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379b5c17-7bc7-426e-8c1a-3aa1ed6200d9 CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be8281d3-b4ff-4511-9f30-0d136ed9bf18 CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b5783b-bc47-4198-96d7-aa3183458733 CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04efec5f-69cb-4f39-baac-53f1e407a330 CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 908886a9-f4f1-4d79-a148-853a74b8dabb CAID:CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b54d180-90f4-4d35-b19e-221a86b2d1fb CAID:CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b214144-dfd2-41cb-b102-56d0d2405d2f CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39e79f2e-5e95-48e2-8cb3-c7f728011fe7 CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c3a7ab-40dd-4510-bf83-f1e421996dcb CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 232ac087-8455-4115-9ccf-1106c3bc2a26 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd30803-24ec-4034-bacd-490655f9cef8 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80a7e431-15b4-4f95-a85a-2388b1293110 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd3bfc1-ab84-4872-92cc-8488ae10b2d7 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c04a690-607f-4da5-909e-19a822a05aa9 CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0333ec0-c204-4e3f-a0ba-b08e8db419c9 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e18cf4c9-e509-4299-b043-40265b44251a CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8252d51-1527-48bf-b523-78a9ca221e05 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44738114-e05e-4e59-a920-799611c494dd CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66df8d40-ca67-4ac9-a56d-06a193cb93b5 CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 148395ca-9370-46aa-9037-9da25970f0b7 CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58671043-bd81-4cdc-b4d4-3fb5206aa8e9 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec172ab2-6bfc-40c2-9272-e0384745e1ed CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15c3294-b1aa-41a5-97ad-1243daf32e6b CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 775467fc-8c6e-41bc-aaea-baef86086f57 CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4a2aa9-7b57-46ac-b87f-57a4274493ab CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 760beed2-a1c2-43a3-a20d-fbb56e7e7a25 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54f66ba-058f-4763-bd4c-1b4ec7b6016b CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3a1c838-086f-4204-bb3c-83d314848ce1 CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321e7586-24ef-45a9-848b-4311a04327de CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8576be2-8bd5-47c9-b6e7-e1a25bfa6b47 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3064697-04e7-4b40-b5a5-686db14ee244 CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6d74463-0694-4c60-940f-13c70f6464a2 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57ebb05-f3c7-43a8-afcd-1736e791342f CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43638019-a66c-4690-a991-aca22413d42e CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c54f5e-9a89-40ba-a961-5cf5733eaf89 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d29ddfe0-8422-47c1-9aa6-1c4f7d132200 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d65047f-e3d7-46eb-81b0-6dd5983193a0 CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10ddef11-3a22-4227-ba44-6607658824dd CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2668efeb-e22d-4792-ab96-3ae64f81d47e CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8decf593-c455-4232-a285-84dda083c256 CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f59c14d-9239-4988-b2ee-07f2789e1d9d CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5a4c4d0-9d8b-43e4-84ac-44d2ae36e2e4 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d69a350-77f5-4042-83ec-a2d8fc1e57e6 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c412ee8a-865a-4164-966a-a409fe945e79 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0b7567-a81f-432f-8341-6bf7de200f49 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2423c7b6-cd8b-4240-9c81-ea925631eaa4 CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a56b544-d126-4021-a857-797c6400d975 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f500ee16-3fad-4395-9fe5-538d721aca23 CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaf9138-ea9f-4e91-91d9-04e387d272b1 CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 412e8a88-dc2b-4f49-89eb-be89ccace5c9 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665efc79-578b-495e-8e33-3c24cd418858 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1363c1a-2bdc-4ae4-a185-1daffd55049c CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80b4050-6df0-4e00-a085-e89529f70fb3 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 463044b8-4022-4509-afa4-b1aab60d5160 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e687292-dbb4-47ab-adc7-2606f8121e3f CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fbf7736-6619-406e-ab07-80c68c1ad85b CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8dfa69-2732-4c12-93c8-4d66f190b1b0 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22330735-d7dd-43ff-aac3-6faaa391e1b5 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8037cf-8bbb-4de1-a0c5-5b5cdfa3eaff CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f25f0ea3-4f0a-4ed1-867c-c08a3c986caf CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611a045b-c71d-40c6-960e-11b72b21f3b6 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7d367b2-c07b-4cdc-a771-a2d86694c100 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699d9626-1b2a-4e93-8001-3943c059e585 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41cf9574-2dda-4059-8b5a-9c3ad2d05666 CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59adf784-ddb1-4326-b457-faef44da3e6a CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d6ac337-4599-4756-a4f7-41d03d5233fc CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29aa08e7-a49f-4d3b-b035-a6e1fc37b955 CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12b88d62-596a-48d4-85f4-9e0c2587377b CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538b7436-9491-4083-ac51-811ac0f226ba CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f4d82bd-6386-45ed-8a8a-762761323226 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58cb7b3-b35f-4406-abbd-a07a71646618 CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e2d5a13-6e93-4a67-94f8-c4bf106b3377 CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c6a588-115e-44e8-8063-9530531ff898 CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8245d718-f404-45b8-9f18-4f9096afd17a CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb57b99-f8a6-47c8-8423-36677f3c111c CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36cfe091-96b2-4b23-9ee3-5ea7bf85ab19 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef5c251-7b58-4936-bb31-c87243382538 CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56b3de7a-a719-46ef-afe1-6d79eb7f1244 CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f391d34b-d6c8-4ea9-ab07-582234e55f2f CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4de614dc-e3a3-4658-9aa0-e5b57f0ef9bc CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b89d4807-bb0c-49e3-b861-35253fa6b6e9 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87615b97-8ce1-40f5-8bba-00563eee4f1d CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d4da22-1cd1-49aa-86c8-466f033aa3a8 CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc5ba34-4556-4c49-8e63-a73f3081041f CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b606b393-3969-4659-98f3-7bddb4e9c6c9 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cbbc48c-b38b-40aa-9928-8748cd659a66 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9182b2c-c7ca-4b9d-9370-b4971518b741 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75ef1b8a-e779-46ba-b527-161e849a6974 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a1d18c-1baf-4b70-bacd-e384106877a4 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 999906f1-81dc-4d25-9d25-d3aa53837531 CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e6ca17-2b05-4eb2-b883-fc093d898e8d CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee06a01-71cd-45ce-8bdc-4daa95b1248a CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57151045-5e1b-46af-81e1-70c206c6e60d CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a06c3bbe-588b-4fa2-8cd3-d1abd7eb91f1 CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a57283b-91c0-4f45-99ae-6afac8e4f722 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 428a5e4e-7ebd-4429-bc8c-c157ad6aeb3c CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba534b23-7506-41ce-9843-9b43de53ac9d CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5730552-cb00-4645-86fc-25b82889bbcd CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633fb0d9-201c-4bc9-af20-99db6babb95a CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07cc4054-57c5-46c4-b21a-949e955ea528 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454024c2-25cb-4dea-ae30-a05fbd1e17db CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8db78251-2964-4892-9175-aac8c1138645 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7d813e-4591-48e6-bed2-7886b449927d CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d6bef59-d31f-4298-8979-b41b72824616 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d3577f-246d-4879-8fa5-83e3af3fe559 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ec8be08-3949-4f06-a289-4b0e29be8e07 CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb14f499-6df2-4586-9280-a94e81aeb7e3 CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a479cf48-b7eb-40e3-b5df-d7c43c32bbf1 CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a3673a-1f8f-433d-b7ad-ffc9fcd38269 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 580d6ad3-e971-40b8-9946-709812eb43bf CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f16aa1-6c31-4052-a835-0635a71e40db CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 979371ac-06ab-40c8-836b-bccdb707059f CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50bbe638-05e2-4042-ad81-3c7dd3ef6a2e CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8e2f72b-6fab-4892-8acf-cf77f7ecd5d0 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50979cfc-90bc-4dba-84e6-9ec8ff43884c CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81b101e6-bbad-454c-bdf9-7620d0dcfd0d CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d3f0b3-1ffa-447c-b478-7aad45c6fb32 CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b0ca7a0-399b-45f0-8793-c4afd950e236 CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f6db4f-66d8-4a55-83ea-61d6703e2262 CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9ac9f08-6e9d-420e-835c-6eef8842921f CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7adaa7c8-3157-43fe-96b0-540581bc32a8 CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1df91231-8a9e-4bcb-8779-731e53b0ed3b CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10450168-1952-4360-b9e1-b346d9982536 CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a507fa54-0a82-4851-a605-afcdbf42b233 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a445ecd-03b5-46e9-9e4d-3cfd4ce593fd CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3555743-ede8-4f95-bada-76356d276ebb CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b866d81-c97c-4dd5-9631-0d82d8ff9d5c CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bda1b1b-c336-417b-928a-1972b2f258d7 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e0f9fa-6183-4e4b-a4d8-fbe5d4b1e3df CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009c0a00-a68e-4334-8916-df5df3650e4b CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db80694f-832f-4c7a-8b1b-389f8d33767c CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 789002de-a8f1-4e79-a2ee-3f78c283f60c CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5312d739-9119-4f71-b83e-5ffb0d1b43b6 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7a4d9c4-ea2a-4268-836e-a695c85cdc03 CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c0e772-ab7b-4080-9020-8390caaa8f3b CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe41ba2e-0d2e-4827-aa76-21502c3eea52 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d51474-e444-40de-8616-096b33cf36ad CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e99dc046-f1dc-49d4-a51f-8608997dd54d CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f875426-6232-4d73-8a97-3a8ba7cee3a3 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33e4206e-6f2d-4ff1-8c5d-2f3a62adf3b3 CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccdbd7a-ef2c-47d9-a84c-5253e0d9173d CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed818c0e-9f3d-495f-a065-81ab521b4465 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d8bdde-0a06-41ad-b37e-11eea2c3cb99 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8725189-3ad7-4948-8212-4531f0a81d85 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95243fab-71f7-4818-9b63-e942f8fb1688 CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3e3c2d3-3654-42a9-b54c-1896bf1ca566 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37931232-deb4-4ec4-9c50-53a232635cf0 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a09ae40-2e83-42fc-b30e-79e26ecb0bf4 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2902d8d3-7f53-4592-ab1c-1968ea74e9d5 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c87e6a42-cb09-4c71-8300-8e71fa018685 CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7d258f-c268-4dbf-ae6b-4d20eb7708d6 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b614f20c-87b5-42b1-8997-ea3a16c54b5c CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2231d74c-58a9-4d34-a59c-be0016d981f0 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3891000-9da9-4cb7-b9bb-10a006906bc8 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c217f2-527b-4b09-87b5-24eed699fd38 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d19ab0-9efb-48b4-a4c1-3ff934b6cfb0 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9bd328-3dbf-4d99-bcae-9a4797e12e47 CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c4ffdf1-1b46-4c7d-85b8-5048a6082352 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b64278-b317-49a5-8ae5-a48bca9019e7 CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fec00767-3469-4575-a1f7-a32273529c30 CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1998977-4f2a-4c99-b359-84a4960e06a1 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17195a29-df3a-46fc-9564-d1f86925dc22 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96137bd2-0ab4-428d-95ad-46fa43794cac CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74cfd4c9-32eb-4462-a4a1-4b3bcbb2a23a CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561ffd0c-9a8a-4251-8d8a-53f04d622845 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c034546-da49-46e7-b1bd-4f39c41dccaf CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fbdc97-2d21-4200-9b70-f926d649f5dc CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b831e656-42fc-4a59-947c-bc4413ff5271 CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58daff3-6d51-4a3b-9f47-040d09ea1d4f CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25eb513f-5d73-4ce9-b8b7-74be8c75fa7a CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8146d03-33e8-4701-a58d-605a1469c608 CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4851afaa-ef25-410d-b8a7-0065da793a72 CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dec846d-a13d-4250-ade1-f4f817b3f4ca CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b672323f-69fb-42be-a3a1-7a91abb134f7 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c1fe4c-41a5-453c-98b5-7848ac8a9dd2 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45dc9c7e-ab47-4704-8d42-82528a7dbb6a CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d660db8-ce41-43e8-8ebe-75d679f8a17d CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc6bb799-f6c7-4fd9-92c0-c1342a5d99c2 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e552d0-7e0b-417c-82cd-a1b5cc9c4ff9 CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a4c6459-4207-4685-a4f3-4515669fef29 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d0f2d0-271a-4098-9000-1a50c292feba CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb8312b4-35f5-49d7-a80e-a9ec4626481d CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e94042-301f-4771-8b58-d27cd8a77cf7 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6485c085-d55e-4873-b1c1-b115ba8b5d45 CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bac87b-0be7-48d6-931e-8babc6a9ffa0 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 013116d0-bada-43ed-aa79-29ccb49a81cd CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bee59c-a1d8-410e-abfb-08e7a906ae4a CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd130460-f7c5-4851-baa6-7f76ecb47775 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35db1adc-c619-475f-9856-0e49fc5eaf6d CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b0b5a77-cda4-41d5-b86f-87b78b5ec5e4 CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd48c5a-f043-42f6-b6d7-5b09ebb5d265 CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6965865f-4350-43f3-a6dd-a7ec57b49e63 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8580092-934b-46a2-bba5-a3a5b943b8f7 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da7749de-9247-4337-b257-75866fd2a38c CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86507c1c-1934-43fc-bcbb-372c137ec2c1 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88344178-c1a7-4629-aa3d-403b1c4cec6e CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4845144-aba9-4103-a23f-e0dad23d6844 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 945b21aa-eec4-4079-9927-89964503a29a CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37c831f-42a5-4363-9d25-f0fe9a7dd4e1 CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0218ac22-cee1-41e2-a669-6248a4bd348e CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59436fae-0def-482c-a7b2-e4f853f984c9 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a83bef4b-825d-4796-9902-e298cd4305bb CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fd1096-a157-483b-88ed-023ee4af5ae9 CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b342a24b-5e77-416c-ae41-78117ed10f9d CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1998f7-07b3-499f-9489-c7f4523b6021 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78b02afe-0b03-4138-b7d8-75d7fd4df4ab CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c4f8f5-f91a-46cf-9200-b4afc4bf9569 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9d48224-8273-4138-81ce-2b70ae83ec61 CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2880519-90e3-412b-aa82-30ebe59c2641 CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a0c8632-7094-454a-8247-d7fca798953a CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc0c606-62d6-4cbf-b0d8-a48d8b29d4a4 CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42183462-afe2-4435-8154-2635dc67d28f CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16731c2-e76b-4772-8129-af20e6ce2980 CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f808095-e9ee-4142-a474-519b9de5ea31 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e4d1db-91f6-4808-8c81-c385009ba9c4 CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d264b158-1e77-4c49-9741-89c665a4c4be CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8b9af9-e2a4-4bb5-9a3b-d219fa65fe3c CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db834420-1e06-49c1-83b9-9f31e0fb334a CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b25088-9b84-4c01-9c1b-6e81493cfb4a CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84585430-d93b-473d-9448-819641455de3 CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b98c1b-9cdd-4ddd-8e4e-5f3ce39bf0c9 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8eca3eb-45d3-4d76-8ebb-ea61a6581b21 CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a6071c-483b-4eb8-80a7-a25a94621d84 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba53edf5-7b86-4974-a5f4-aebc098a19ba CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87faa52-aaf3-44ab-8e73-0e63267aa6a3 CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9feec99d-ca10-4bb2-aa86-5ea153fa750b CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed48262-e11b-4a36-b9cc-97ab3f314bd7 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b98dc5c-3eea-402d-8d7a-24e24e180553 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cbb1f5-ffa8-4519-9bc7-7a07c22fe4a5 CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10b1ae6a-80ce-48a6-af39-23e3d7e70f58 CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f47d6f-3a03-4b6c-ac4f-c26b6603e0ca CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07458e8b-4753-48fb-83ac-594156481343 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5aeaff-cb34-4533-871f-894329789ae4 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 977ad21d-227b-4421-951c-8c8427e3e1c1 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fa2f79-8b17-46a0-ab9d-51fe1de98731 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea6e41e5-1c6e-4505-b5d2-c38bac082ded CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d260059-d377-428d-9463-90024bf1c851 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fec4d5ce-995b-4ee2-a978-f56ae5d938d8 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a989aa-ae21-4134-99f0-c947b40738f7 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ffd3d9-059d-4ac9-97a9-45a47e0b8aef CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac80ee9-4954-460c-9020-2be026a32f89 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04d94195-7065-4d6d-b0e1-568d8ebdacb0 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9167cf-bf89-4381-a607-b419e36c5011 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5912c4-cb22-4bcb-95df-945b43179877 CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f30c5b-2f59-4364-9c36-ceb99f429917 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dd8f5e4-13b7-47ce-8370-9133af3cc0b6 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e875944e-40f3-4250-9560-47e46d5a1b20 CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daf22669-7ba7-46bd-9e06-33d5131bffa8 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1b3ec6-4b27-4673-8739-dd5bf326d2cd CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0959bf9-c36c-4833-ba86-8822407317b9 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4812ee48-8556-422e-9b43-5f77a4d2f3d4 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b83f257-fc87-4533-bdd1-76349bdb4934 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195c3631-86f8-4b18-9418-878fb808b62c CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1118f4e4-428e-4b5a-9c4b-a8b094725a5c CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c59aa0-970c-401f-8845-6a4c6ce3214e CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83225ee6-825c-4d6c-90bc-63c9e519be67 CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a668f262-2e06-4420-84df-babc51130ca8 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0ae9838-c26c-4248-9500-7991ba4957d0 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c26978c-687d-4e3c-a54a-c0311cb840e3 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 912cb1f2-9231-401d-a4c9-2f7994adb7c5 CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd2e562-d3a3-4201-83de-a197e1aa293d CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04d7f138-7266-45b6-8ab6-77f82565344a CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b986a2-63e6-4e40-ae7b-8f98d7ad50be CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cdbaf9a-0c8d-4575-8693-f62c54c9eb45 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3efaa6b-fbea-4676-a11d-a6dd32281232 CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e381534-ca9a-433f-b8a0-f5c5b4005898 CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34c5f21-8d1a-4f63-9a0d-a811e401f46b CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26550dbe-8400-46b9-96d7-4c665db89624 CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dff98ac-6f18-4992-a6af-e8e94a4f3f4a CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9b41ad-7334-4fca-9e92-9002dac1aad5 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9571659-9a3c-4754-94cf-456d3305a2a7 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 238c9e8c-c450-493c-bc08-42938ce1ad20 CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24bbaf2e-b178-4ef7-8cad-9eca3c7d7c52 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcea988a-8e83-4ded-a0ff-961ec160759a CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e340f74-f7d0-4c18-b73e-95a5ac4721db CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5faa64d5-7644-451e-966a-2c041de8d5ef CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed9f7cf-6576-4026-9f9f-c976b3941386 CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64844f50-4b71-4174-b39b-46307939612f CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e059f3-e19e-485b-ba0f-63b55a91324c CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 607b1a73-5453-4e01-a2e6-56e75759c6d1 CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bfba310-578f-4d6e-9c0c-0e98c6148b74 CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19f833f9-999f-43f8-92da-96dc9cd10db1 CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6378f6-3cc9-46a0-bc18-90d8924d7a15 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 027e2e30-4120-4d9c-9821-0d3ac39b574f CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40fb3f6-38b1-4561-a7ff-cbc467147f5e CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57b2c3d1-e464-45e6-bde1-571b65b3e981 CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f6b7c4-e70b-482b-b5b6-a5db481a4846 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78b83c7e-836d-47cb-93d8-63709daa8842 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2919f2e-3bd0-49d3-856c-6e41ec851934 CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43884f0a-2a4a-4c4a-98f3-6dddf6ba8ed3 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223e3a6a-1091-44f0-b330-91c948d77e77 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bfc6a03-6409-4f24-8311-0d11666f99e9 CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80d218c-190f-4660-ae1a-34e5a32864c3 CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ddff2c9-caca-41d5-8554-db0d7404608a CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564cbce3-81d2-4932-8d92-e9ddf676b75a CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 426750a5-c796-426e-9a16-eee25d0d3608 CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767c2461-88d3-4ef2-b679-f24aace8666d CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6534a65-6b5e-4f8a-8bb2-83546b07ece5 CLINVAR:3066429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa2d274-6bbe-4e82-aa36-53690ec6a3e1 CLINVAR:3066438 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddccb168-6afc-43ea-aa09-ca235e316188 CLINVAR:3066438 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244ec25d-2160-41c2-b0c0-68536f7276c5 CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aabbbd25-f51e-4260-966c-e159ff5fe170 CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c064b5-e1da-416f-8a3f-327471f12184 CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 687c67e5-4012-4af7-816b-bbafae4e5864 CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1aaba4-cdfb-4b67-83cb-1286818da612 CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8767ba9-ca67-44e0-aaf2-fd8c3d21600c CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ed5936-4e17-490d-8146-6a8ad95d3193 CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aee7df39-676b-4eb6-b939-affc6b4b902b CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23a6cad-7501-412c-95a7-619c80b902a8 CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d6d1669-4dd1-4041-b031-9737e9b28970 CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6c94fd-9970-4082-83ff-966d69f8b4d0 CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d27e2fe0-9df8-4744-b2ed-c42fa5d654af CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ebdc51-37f7-43fc-aa61-cb7298060451 CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb8cb7a1-4cde-45b6-816d-5dc52eea5f5d CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9904c62a-ff17-439d-a318-b8db357d4bb5 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e15afeb-abca-4bca-b697-35c5d4e4af5e CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0820d189-6e35-4b8c-8a17-4098f9b9752a CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9802f0e8-e91c-4f55-a59d-421fac43cc76 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527652ad-1192-41d6-965d-eb12a0cf393d CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d61d10d-4879-432f-ac6d-3b3d58f114f5 CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f803637-0412-49b1-8e60-b43b368d129c CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62f46de9-0bb2-4d01-b9dc-48052b46ac87 CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc04611-16e3-4318-8122-e182904f2beb CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 684909ec-04d6-4afe-939f-bb14901710c1 CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5636ae88-8297-4755-8ece-16070d9057f2 CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2d6f13b-c735-4fe2-b250-6b8e4aaca909 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e16d96b-e156-4a2b-b27e-5390dad20eaa CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c546964-8d98-4fca-9039-cca6450d8fae CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3970aa96-f500-4577-b5bb-44a55114c79d CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 344351c3-cc58-42f3-a6e0-de89628fb8eb CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b820d0-412d-49d8-9550-98aa059fc634 CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21c7ee3d-599e-4c25-b387-533564fb92e0 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9ececb-5ffc-4f3a-8d71-17e74ae66caa CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 208ccd44-5f03-42be-88f1-5316e2bd6620 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435edc56-09ff-4d05-a0aa-b090c134c31a CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f50ba21b-0b84-4c00-a8fc-4d272925c8d2 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c20e0da-2b31-4e83-b0d5-3886f372fa76 CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd95235c-2c35-4727-8c31-47294ea6fd1a CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d19ad5a-52e6-44c5-96d3-dfd56e9a9ef3 CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73382973-92a9-490d-b663-9a0bf13d20fe CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9de0ac8-0f74-4007-a289-43b6e1a872fd CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33d71aa5-db79-4a41-9aa7-bce118f8ffae CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706d3cac-c290-474b-9ea2-32cf8ddab1b4 CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c811eb0-2352-4e4c-8c4c-a6ad031d6b7f CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d97f5a-6375-4cb5-9e37-b71f89c475b2 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f613e64d-2d3f-4d64-a706-0b4ac7e80816 CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23516405-8125-441b-ba15-672ce3099ab4 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e9ce22f-b8cb-4586-9c06-0933d175b85d CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b812c5d3-95d3-4a7e-846c-238649c2ef02 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95a8e857-d10c-4bbe-b1ab-dc519182d928 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0543ef0-f422-4a2d-b197-48cfa8e23ad7 CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2725422f-1878-46c6-b680-c4d321e2d528 CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0703d6a8-ad4e-409f-a555-0f6cfc4321ad CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8be4165-18b6-4d42-ab97-916a4e416c9d CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8db032-9904-48fb-92c6-1e5f97015b29 CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed136317-7327-4bf7-9c88-f31434c94bbe CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7802ff89-a155-464a-80a7-b8d035d8fdee CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1b0a609-daa8-4bbd-8c3b-fedc533f835a CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da382ca0-28ea-4eac-bb4d-68d04fbd81cb CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0d9fa54-5580-46fc-ae43-a61d62726cfa CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447171ab-4f91-4cbb-8202-f1618bca8ee8 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93eae8df-69a5-468e-9612-adb0bdef4b07 CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0f1f8b-d180-4a5d-8708-db73ee671e0b CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c7ae4e9-ca91-4923-adce-43ce8c10fbac CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47673250-5818-499b-abfe-cde55f243207 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df495a74-5a8c-4804-9071-a3e91b990ec9 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b890b661-6787-4e96-9422-8abdb3c641dd CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10d70b3d-d81a-4639-8984-6556f69e62dd CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf6fe04-f44a-4f37-b578-06911a6caab9 CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26f60cbe-699a-4b17-abeb-5885891baadc CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2d7f5b-3f47-4eea-882e-4894b8fc5bbc CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 784f9090-fb5e-4ce1-8966-0b1ff0edf300 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8629f8-05b3-49f2-b261-99d54fcd9c07 CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1ac68f3-b338-4d98-94fb-5de7e8e12517 CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba8c416-62d8-42a8-a634-dbe0407b8da7 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b773bbf-3730-4dc7-8952-90cda38695e9 CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51aae9f0-a383-4cc3-88ae-99b6132fec51 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0f02d85-43fe-40f5-9814-66c46d99a39e CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c62eecc-a613-4337-bb9c-92bfa4948c40 CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63f66298-109b-4364-aa0e-53b15babda2a CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8128d9d9-0d00-4c1e-b11b-67141dd53e67 CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8826c501-55e4-4e9a-a14c-ad1c99a3a1d9 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a881c0ea-cffb-4170-ad03-77a0096cae45 CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d396606-b726-4af9-aa66-63333fab569c CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51de921-5765-42f9-9fd7-cdfd2c29d2f1 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976dc0c7-9dd3-46a0-a23b-c466d6460b87 CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b819a8-6065-4879-91f5-463de06752aa CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e96dd04-ef7f-4a6a-b801-089775853854 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7806e3-5389-4650-a8f2-c5a791860c94 CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae0d3ced-715e-4e87-9984-b76b48834f7f CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fabf025a-44ed-43b4-87f9-47c164ea730b CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccb46f30-208e-470b-afd6-885a7a4457c9 CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9330dd2b-07d2-4c32-89d4-e51bef201ab8 CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33944a5f-1ccf-4ba8-a848-279236ff8844 CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39364716-92ca-418c-acc1-d515ecfd5175 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5d0d2b8-5493-4a26-afd4-0110da651235 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dad5592-ac2d-4c1f-b1b2-acd2ec60e89b CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85105957-433e-400d-8254-9d7f117ca9dd CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c3d1e34-807c-4c83-a6d5-a411a36f171a CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07eedc01-aaa8-4e3c-97bb-5a9eb73ae090 CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d3b7b4-25a8-44ca-bf15-b98802823c03 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 756b35f0-6068-4bde-a5ea-4273f14e01fe CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11d5b6b-190e-40ef-856d-3df729b0798c CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 088699b2-adf6-49be-abcf-e2809477cb84 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde7495e-5d13-4ee9-b23f-b66d4fdb87ad CLINVAR:3066433 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5d955b1-0dee-4b4e-866b-fe21670fa676 CLINVAR:3066433 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54de7597-b84c-48c5-9599-82013ddfa398 CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d563c83b-7887-48d7-8b8a-d8d7c867cd09 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6832be32-4894-4f1b-99fb-6f38363d313e CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dadd7d29-6f63-4bac-b779-7ea3c8b835e1 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6bb7d18-0e06-49ac-b66e-cab06131204d CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c98ac1b-5230-447a-8c2f-70220c94f5a2 CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439fcc12-d17c-4f2d-abce-5e61feefe22c CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52714099-2573-4f7b-a38d-19eafc34201f CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a13eb92-e6bd-429f-b9b5-7783687b44de CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffa273f3-4806-4d4b-b65e-028ef3494254 CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce315bb-d348-4f2d-8880-a46a8552db41 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3747116e-af7b-43a0-9856-19ffdce1aa94 CLINVAR:3066439 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284339fb-704a-4f62-a187-1f9b71aa6d36 CAID:CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 521805d9-cfce-4fb5-a1db-fec76f985261 CAID:CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0abb3476-0479-46d6-b783-c4d2638c4e82 CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09ef0f59-a5c9-4f4c-9289-5d7dd4de2904 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5529de4b-3297-4b05-8be0-0e6a1a3dad3c CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85cdcde6-1625-4807-8c2f-79351c922d87 CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d37ac24c-49d6-4307-a7b9-8918e47d6eed CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 091bd35d-204e-4085-a3ee-4f28d64dcbf7 CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0edffb20-22e7-48d4-8785-abf5b0066564 CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7863496-e185-48b6-9a0e-46a3c07f96ce CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacca561-b318-4c17-a88a-0a0ba3699b61 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 815a4510-2e38-406e-a0bb-225b42165483 CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5789e0ef-6c8b-4113-ae29-4c4d7cc57422 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0497cb37-5f25-4791-bb22-df3a7e8a2fe3 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c5559b-679b-43bc-b8a1-440171b74270 CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08fd7cce-2c4d-4300-a149-9ba3a7cf4efc CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514c8cfc-7962-498b-9c5a-4ebd6bac8caf CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60f9cd38-235d-4223-b4a1-7e5dbaae0118 CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60cae070-8903-4716-a179-716c38b27dbf CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 363f4550-4309-484a-85bc-72b613577082 CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7e39f3-472e-4d1f-a06c-d0063a60fe23 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4e380a8-e19b-4b91-acea-fd6ff0693710 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfa5267-c107-4d8a-a308-8115bbeb29f1 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fc63c7e-d231-4744-bcb4-3925c00bc488 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c951bba-c6f5-42d7-8054-683b697140a2 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04183956-2916-4b89-b76f-ed59bd40a5c9 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3984b332-398c-41cc-9707-0c233b9afbac CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4f915ff-eacb-4897-8304-67a4cc772450 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54f1391-4b5c-4dc8-9ec5-98d060125117 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f04dd85-cf80-44e7-838e-ec9251133bab CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8532790e-0875-499a-a654-5c9e0e39710a CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1886d902-05e4-408f-a3e0-66338deff041 CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2acc614-e7d6-4152-a9ff-b461162c4e59 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2a2bec0-9612-4db0-9e2f-8b835a26a940 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beed6bc4-d713-49ba-8f01-0c3e6f531d76 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 652477a3-6dd5-4090-baeb-248c69cf6929 CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add4a63f-409e-4fd9-861a-613760eb577b CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd7b2b17-9993-4752-afe1-a4a09f5c909d CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3ff806-43bd-482a-954b-6bd020d01342 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc24e7ff-252a-4397-a60e-b6e62fe0bcd7 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64451b8b-15a8-4644-b51f-ae60a8d820b6 CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e25a3e70-bf10-41a3-afb6-075a453afbfa CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c87aae8-e1d9-483b-b0a7-7ec775dd1a95 CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 001b139e-5742-4c98-a5c8-a0d14e99e775 CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b5e5ce-e6d0-400b-bec3-d4f7c0571c6f CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d60dd0c-4a35-4d32-99c7-51161a282ef9 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13ef4da-850e-41d6-b8bc-e5e021479495 CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d16bb0f9-d075-479c-b5e5-734216088113 CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa75fdde-4f17-4a54-ae19-61d7fb546619 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1ada866-05a5-40ca-988b-cab62ba35d4e CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45cf8c35-7c1a-4b36-b426-abada2454819 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fa1ba41-08b9-4efb-8dcb-6837855ae2af CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7581de-3d77-4436-9585-7319a876b3ce CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1b271a1-4c30-4d7c-95cb-2ad1ff4be28a CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598edc3d-31d1-4327-baeb-5688d7118593 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f25dd2a9-4fb2-4dcc-8f49-006a8a206dad CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f46ec1-4881-4385-b0ac-46396051184f CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a237ef79-fcb5-43e4-b770-dbf49edb6f3f CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140c8d1a-4232-4d5e-8b6d-76848ffddfdc CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a9f3ad2-1695-4870-9238-699214ddf89c CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b17fb91-4daf-4a2c-ba11-7ecd51d5a52b CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d1d2e44-d936-44a8-b339-2015347ab584 CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00eb9d47-f004-4455-a222-2442606a8997 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b650af62-3db9-4b6b-824b-cdc046cdfd4e CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a64d576-a515-4d0a-9308-a463a3afc9f3 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cd58973-658f-4cff-baf4-d3ba143b3213 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a5d210-8ee0-4a06-aadf-2346f9671ed0 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27973053-d002-4ec9-91e3-4338330d42f7 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7542130a-ae11-4c23-8fc4-05954140b15f CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffa63e37-8c9b-4498-8b86-34ff14aa8d91 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1285c8-a90b-4605-97a7-96ee099b8a48 CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77d7a345-a092-4568-a3b8-18eb796019a1 CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45d0a47-3bfb-45de-9d12-3a5fb2340619 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73e7fb91-e6ef-4e0b-b565-ed269982a50c CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271bbef2-29f8-49c6-bdda-0281c7fb4314 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e0f50e1-e39e-48a5-a7ac-1f31a384f0f3 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62aac519-ea73-47ad-999a-e5ce343e67f0 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8a0e7eb-dc39-469e-9ac9-2e7104b6da1c CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63188b40-b0be-4b00-8bb7-f88d270d5b4f CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c21ce69-bfa6-42d9-bc75-a6802a01c217 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f12656-4dc4-4d1c-a471-69cad6209216 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 279a015f-f3ff-431c-8d8c-ee2ff126384f CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ea640e-02c5-4c73-bbc1-71765194af97 CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7259b50c-4e51-4fc7-b738-176d582aaf0d CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2995832e-b633-432a-81e1-8f97939fcd18 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 260c4d76-753d-420a-acd9-da4ef513a404 CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dc4919-6d48-4891-95b9-95ed2d2af432 CAID:CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43e675e2-c580-4f34-8705-824a328e86cc CAID:CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c3fc7c-53a6-44ab-b35a-c7bf61115f28 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e87878fd-e60b-43c2-8534-3076d7ac1796 CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e161446-ddb2-4f09-b394-0b5ee584c7e2 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a007f78d-4ab1-4c00-9a40-d1fdbfb35c19 CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7cd241-f23f-47f2-8245-9ea1ea9237bd CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06030857-699f-4f79-b718-38dda12dd4f7 CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31c7882-92db-4ad8-b31f-bbd73a17b07d CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8e2c4f7-70d0-47ab-8ab0-afe76733fa74 CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca4c1ac-2576-430f-8f98-18a997564898 CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1055bc89-55ca-4704-8e03-4bc3ea151bdd CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbe591e-d4c8-492d-b591-c5744dd5bcd2 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ba1fe85-fb4d-437e-8ca9-cc38debdc29c CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8c73e6-440f-4056-96a7-d566970797cf CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c191eff-70a2-4826-9cdd-b817e84d277f CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e4b24e-f3fd-4406-9543-9e2642cfa206 CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f12c762f-da59-458a-9942-db3b68d75c71 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d754910-65c9-4950-8d83-f7441ee59a86 CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc7b80f7-07fc-4da7-bedd-8bd7481a614e CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261d2125-6a17-4e15-af8c-39bed8f27ca3 CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32b6d954-d032-4da4-96da-2a40ffc146c1 CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f327ec-802b-41d7-8053-60d2dd889a1c CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f6241db-ee70-43ec-8b49-8c269ee5a808 CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46f39ea7-b22e-4f92-bf84-bc94e8c7a142 CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4c3b84a-61b4-426b-81b5-182bff230675 CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d26d23-788d-4a94-acfb-c53f66f78677 CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a43828-a458-4b69-a923-438505b79fc8 CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4676443c-ad36-4148-8364-36579d9213f5 CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c5732eb-c636-4ff7-8626-24931db782b1 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e9dd7f-8007-425b-9d85-6cf838473dbe CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a889f6b1-f574-4734-b028-0ff4f411ddec CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f6c3b7-4088-42cd-b2ca-73223126bf5a CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 185c8ee0-92db-4179-b61b-479f99618c80 CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7244da6c-95cf-4f03-8b00-b564e1748190 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3728c44d-c939-481e-b28a-b7ab135ae16a CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e97c35-e38e-428e-bc49-013243d1e651 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d7a0def-6364-4661-909b-2f0e7f308bf3 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e766f09-d920-4e9f-b51b-049d92e04c12 CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84a5e93c-0be3-47d5-97ff-72c44791f9ca CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3602688b-3e38-40e9-a73d-333f80a0c032 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01bb5596-1337-4add-9ace-4522e706a342 CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feff1385-b633-466f-8610-e71401f1f22d CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a91de7cd-788c-48be-bb07-4eff3ab2cc95 CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d4287ae-6724-494b-87be-cc275881f6ae CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d5e018e-12b4-4837-9051-b113244734da CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1daedf2a-421d-434e-a6b9-e0f0a16614e6 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81f42a7d-f11f-4788-bc1c-700f2b8024c1 CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0218982-5200-43f0-96b4-b9e1db6e8c80 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 532fcc02-8386-4724-96e9-5fd9e95acccf CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3498a7f0-cd84-4053-bd77-8b44d30d49ad CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 029da4bf-e7b6-4e9e-b6aa-89512aaa6dae CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b63a3b9-aa4d-455b-a4df-16e44b7ef6dc CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 670408cd-0546-4e8b-9659-312e7512b144 CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0895fb40-b6c6-410b-a798-9bd430134a06 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa74201c-0dc1-4353-afcb-1b576d935452 CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3a0c2e-5344-47a7-b0df-2bb744629bfe CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88afc521-a861-40f9-8afa-17c98965c41a CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82caafb-8fe1-48f5-8c3e-ca3c897cdf0a CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55dc71af-3835-483a-aecc-4ec06aff7fca CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21df36d0-f961-4603-8f3a-9e3ef0cc3a28 CAID:CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be0152e1-11a5-4ebf-a8bf-677afb654da0 CAID:CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb90846-797f-4408-85f8-cf14f0b867ab CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25def2ec-e6f7-4183-88c9-4db168d6fc4e CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc629ee-d34b-4820-a408-fad5ba067f59 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4872fedb-9344-4999-93ff-cdc931aa732f CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35dff44-39a9-4663-8262-7656cc5d21db CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a7e5206-cd86-42cd-b924-9b01c8c0222b CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b4af7e-f8b7-4ebb-a635-1833da83035b CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be5c6cb6-0d72-4278-aaf7-4eccf900fb81 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f044e17-9bcb-478c-b108-295279a8fdde CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5376dc8b-e32d-45c3-9e67-ae0d61d17a5b CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb955d80-76d0-4250-bb71-a5a2e2dfa292 CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85ebce11-6815-4f87-aa0f-295babdc0772 CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3efe575-3d49-40c5-bf14-3dca75238c1d CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bebc655-86db-4d23-9aac-be8e11b1fd58 CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9819b2-b036-4adb-9b09-3894c4e9efc2 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 974656ce-f36f-41ee-b27d-af5c4a152c7f CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d1cd3c-cd79-4d02-8cef-7e8c812e3594 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e59477c-7f0b-4ac4-9dbe-d172a2b87880 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9460b56-655f-4cf3-bc2e-0aa17a0f317f CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f881101-2021-4bbd-bf46-ae2c23484bc4 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83f318b-334c-4ff8-8fea-ae4e8c1c4064 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4c59c97-ece4-4653-9ab1-5108cb2d5e46 CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1aba89d-ddf9-461f-958b-128255cf4237 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3efc32a7-6d9f-4541-9a00-4e595c6b1b92 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b6225e-5634-4ce4-a5ce-6e325eac5802 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a250f76-a7b0-4ae4-94f7-38aa65fcb123 CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ee95a1-1bf1-4b82-96f3-7282bc45dce2 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef9ec124-c89c-41eb-aa66-67109332883c CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac40203-1517-4f53-b44b-3a3820166c0d CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 527528b2-bc24-4159-9a2c-365db1daeb38 CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a659fff-fbc2-42fc-b379-b0fe459f19a7 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb993838-79f1-487f-8b72-3586dde15bbe CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ec3a2f-1ab2-4e5e-9a6b-2bff2b49b0e2 CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b98f7679-03cf-4db8-a8ef-fb45bb7f22a9 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b055366f-a252-44cf-8c5c-8eefef3ae449 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d78da77b-0a02-4610-b40f-23e2ab9f05b0 CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6e5895-28fb-4c7c-a0d1-6b350191407b CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34da6b19-5b98-4c06-875f-fcdbec03257d CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b40423-00d5-44b1-9627-63e040f905f9 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84db03ed-4b87-4306-a655-ff5f631a852b CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f42323-ae40-436d-ba33-2416472de704 CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c02f44e3-2004-4c3c-b896-4f53c995296d CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784f424d-1162-4ce9-a604-bc9251b84c9b CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5818c691-570f-45c6-a569-3e4b247ff942 CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b6f2b2-aa4b-44cd-b2ca-a94365ebe9a5 CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 472b090a-8676-4129-8233-537c98f006cf CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c1cd55-eaf0-40ef-9d66-1e06ab30927d CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a84a757-0f99-4bd4-89dd-fd3eb8deedd0 CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e608bd25-1a6e-4a5a-9350-73dda79567df CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e498a161-e5a0-4360-92af-8301b7062559 CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b901bb33-648b-450c-bde9-133c25d5f45c CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 080cb67c-6e2f-494b-b400-509d0f8cce07 CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0167400f-8db1-48e1-8fbb-cbf6f822a00b CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24a1e1fe-e984-4b53-86b4-28b1e8cba8d8 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e40d99e-59b5-40b9-a0ee-38eed630fe1a CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 865d34c2-28cc-473e-845a-40aeaaaca2a8 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f424853-b508-4379-9c1c-edbba5e46f12 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c62f3166-59b2-4616-9a34-5adead8c2dda CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b702af3-685c-4744-a431-83ff3d39137e CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a070036b-111d-4ee6-98ef-c120c09fc56e CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b309e8-f86f-4c34-8e5d-f5d8eaf6db77 CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 857f8eb9-84d5-49ce-92ee-f45ed9853455 CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95835dd2-cb7c-46e1-9f52-512887399f90 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9e108e1-44e4-4d53-a7e0-b74de386a12a CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992b7008-0c2d-468a-8bfd-b4b7149c311e CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 355354a5-0e19-4404-a7ee-2619eb6bde17 CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153ac43e-4a8e-480d-8c7f-4450ab7954ef CAID:CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44d3fb8f-9ed0-4a52-a53b-59a07229d0b1 CAID:CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63315de7-482a-4922-bb31-2c1a66e9a4a6 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c94739c2-0855-4eb1-9509-6e7eed782a29 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef81481-22b2-4dcf-a137-25578a2e1f33 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78672175-8b58-43a2-a8cb-25c1ed25c693 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022c1dfc-9c2c-4f38-8172-ef146e711aa8 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b98156a-0acc-4b8d-9120-1ff26874cd82 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4e8dcf-c86a-4562-b4c8-61d2d44d292e CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f98b057b-0966-41b5-afd1-fb9dc671e8e4 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497b710f-7130-452b-8cc3-c907db2ae1f4 CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62637db8-9a02-478b-8668-1dbdf96caf3a CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7f8bdf-1cab-46c9-8aed-4f9ccbf5f0e6 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7076b3c1-8439-43e0-aff6-10760cc187fe CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43bf7d6f-3f39-49fc-a94d-c8955a976531 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b64f30dc-b8d7-411b-bd36-9a6ba1c6fb40 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdee8108-53c9-4bfd-9994-31ec5573ece8 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a1a9d84-dabc-481b-858a-63f363c79945 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58596448-d68d-4741-b025-7a07f3586f52 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f9eb62f-24ff-4696-b57a-edf69521df84 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e090b4-f4ad-4cdf-8816-6062815b2542 CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fe15931-97a4-4cf6-b311-0733fc08d889 CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d91a89d-2e2d-4536-a04c-ded18933e871 CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bad0a2f-4b8b-48c7-ac3b-d7155f75332b CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0364d9f9-784d-4586-8d58-d85d36960f7e CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57b2c621-3489-4887-bc74-1590310f0498 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45adc8a-c0eb-429a-91ed-7c3fa312a5ac CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4118638-d001-47ed-9c74-6ba911d0bc8a CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e67461-6842-4c2a-bd53-d54a5081d82b CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e15332e2-00c7-469b-8dda-4e31da6c0bb2 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699dffa0-2ede-487c-a1bd-691dc41c94c1 CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d0b08f-bf58-492b-874d-f847d43ca78d CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b56c4ab-121b-467b-ad11-74c67206f7fa CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68a402a7-86b2-4f43-b5d6-59177dd8d23a CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f943f20-a2bf-455c-82f0-b8f94210ad03 CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59e09cca-0890-4291-9792-a12950c3dfaa CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 960ea2d9-07d5-47ce-90c3-456f2653636c CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24093fc3-7690-429f-aa17-895dee2a13a6 CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd39fe0-e84f-4263-89f4-4b5148696b2d CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78fd5672-2cef-4d93-adb6-0ff6eafc0cb0 CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6c99cb-f0f2-4382-94f9-cca102cb468e CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94dd0b01-e50d-4cf1-a850-3e6479b91ed7 CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66065e9a-c59a-40e6-85e5-c3e13aa36b23 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 219f7a85-42a1-4f56-bfb8-accfaa19b768 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9febf41-d9fa-4504-acd4-fad0e4d039c8 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47126574-5212-4a24-bfc4-896758e0f0fc CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2970ba55-d20e-43fd-8a55-4f588949e00a CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d5cc7e-7131-46ce-af7b-20ee8954785c CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9563989c-8612-4d85-b18c-1df92363311e CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f09cabd4-6be8-453c-8360-44a846ae8114 CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70f3912-5d5d-4c4d-897a-f6c03c2ec487 CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e44361-933c-4496-84ac-d7cab41d222f CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25120f7f-c70e-43fb-9005-fb37740bc307 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db25ae1-f95f-4048-9e66-df5dac483403 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57031b9f-5746-4442-9e0b-65e9d785f115 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9c81530-a4a4-4268-a6d2-25d07520374e CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54044999-b995-4074-9c92-93482eac1915 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 930b89d0-447d-4187-a4dc-7738f83d9270 CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa63b4e-81f4-4496-add2-daaf6e3e2912 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2927bdc-c639-4969-882c-26e6c880db8e CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ed84e2-d939-431b-ba1e-97db35e488cf CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7267afa-a7e7-4f7d-a71e-fb11e0a94e5b CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1593af9c-c4be-448a-a527-695c035f6a5c CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0e7708-95ce-4c12-863e-0863c3319ec8 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb9fc964-81c6-4fa9-a690-b1de4044a116 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 052dc51e-bde3-475e-95be-90bb804cb9fc CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ee9f39-53a3-454c-a644-794772da7c3e CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55f70329-5f9a-44de-bdc2-7faf0c20b4ec CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67641b3b-b12b-4304-890d-8323f1c2444c CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb6f026-700b-4c2f-aef6-5a7f63cdc541 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e8fd3d-d2da-4189-a96f-156fa4919ce8 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 022463fc-1b11-41ce-bfcc-253bbdd79812 CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0847d7-1c2b-420c-9d26-6bd291fe74af CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bc55f9a-0737-402b-84db-f61afe66a061 CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bbe664-2192-48ee-94c4-2144f4c8ab7c CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 612eeebb-6b3a-4bd5-9a0f-eeb2139a5d46 CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b0af50-81f3-4b14-b041-6f0b24af1a3c CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0057446c-bc63-42ea-890e-35aa719728de CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70534a7-853a-42ff-884b-e04efd599cd5 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6094fb15-4aac-48f5-b6f5-8aec2f90c00d CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91490d8c-3d33-46dd-a9e6-4823ace130bb CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e3bfa3a-79bb-41bc-bdef-5c2df325c864 CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a41b4c-572c-48e7-9826-eec24fa34842 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01b6638f-4460-46cb-9a06-4d06f05ab7a3 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce71bac1-86dc-4cf1-a68e-697c373ed021 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 087c01e7-bd54-4fc9-9535-56069d13d406 CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e60076-0230-4dfb-91e4-66afc4ec6d85 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e537b49e-1c00-461d-8b65-95bfd794b696 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b47c8a-7371-4f85-b1d5-73ef3f28075f CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7084115-47bd-48be-8d14-7482344dc58b CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b547873f-87bb-4ef7-b508-9b979acdc798 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 949a6a40-73b8-4327-a2ff-46c62064e371 CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eef7d99b-fcb6-4223-b4ac-3e47407c8105 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 845e2e4b-4cf8-438f-b62d-41e2728acfd9 CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0803c365-7f53-4e59-8c55-7994c9cfe5da CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75849bc4-f126-4d9f-bfff-0536d4477411 CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2099844-96d6-4e1b-81ea-0adfc1cd4a1b CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 402d0c26-37ef-4af6-89b9-73186541dfe3 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32eaebc1-580c-47eb-8208-bfb34fa6f6db CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b1025fb-bee4-4558-8bde-2159726362e2 CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4080550-9cc0-4025-be23-38e107dcada1 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cecbd6f6-4841-4877-a074-178524eb9495 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b1fb18-d62e-406d-afac-04c30a852674 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bce7973-7a89-4f20-97c6-2e08e8fba755 CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60216f7c-1611-4fce-9b4f-abb6f08844ec CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eade0437-ff70-4f83-9b36-c3dd7c57a21c CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5234cf6f-d937-4354-a6af-31a5759507ef CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8714a25f-5fb1-4154-9dd1-3e418c2647bb CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bf0327-30c9-426b-a61a-6be031a1dbe9 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d33bb7d-e50e-4253-a687-7a9b5567e4e4 CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3274609b-7d93-4550-961a-1fe1526ad7d1 CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dbab367-7c84-49ac-9e9a-ad507d60eb4c CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e554b7d-7916-4cc0-bbf2-5153d2d4f439 CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 458cc099-8c60-4fff-8593-af977b84bf68 CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963f77bd-9164-4894-b4e8-91e572a4b635 CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cb834ac-abfa-4f64-ac3f-94ce579be4ce CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5b392d-f6a4-4d5a-b713-55e61c960d4d CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bd46c19-3180-47ad-b431-c3bc6c9ea9ea CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934e7f4a-6856-48d9-b4b3-b51a90a904f0 CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 281a1a68-9ae6-41ce-a4c9-359b3f30cab7 CLINVAR:3233998 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b05a7aa-8005-4633-92ac-a359a2db6a79 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bc2d257-14be-41c6-8ddf-a5a8ad28387d CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd7b4b3-bd2c-4a0a-9941-d10aa1ea9358 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92694969-3a50-4dd8-a453-7c5615eed2a2 CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b075c5-270e-40f9-a169-fd9f60698410 CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bd58fce-8d41-4da6-81d8-5296476c46fa CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f68b318-ab57-4321-ab75-568251142eee CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7cb7127-c298-4f1b-b6e0-82ba9f78593a CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf7a0bf-bc2f-4b24-8eb4-9869ccc1077d CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ed4cfcf-e0dc-46f1-8e83-c9cc2876b35a CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82fb747a-5ea7-4c0b-8ca8-9611adbc4de8 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f88b5e47-b1e4-42f7-817c-6a26a08729ee CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbe6653-a927-46e1-9295-e94326b6cd30 CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b53a3f5-9017-4086-aab0-cf1dbf11dbed CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f959190b-dac7-42ef-af7a-067351107709 CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce34a8a0-3238-4f82-9787-6d92e8b3594b CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0467bfb5-d5eb-479b-b04c-388ba04de508 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6be5355-e9ed-443e-be63-53b3589b7023 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c3512a-b80b-4470-9a61-2acd42dfcf09 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb138363-7bef-4a44-a705-68c20240f2d3 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d167240-7e37-41cb-a6ae-41d39ca96e3c CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b05849-dcd5-4813-93aa-25d24b94e590 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abdb3bf-ac2e-46f2-9033-01a1c2a5cdc3 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8111a5df-0313-4f70-a499-0b95a01cee36 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44be7d7-8a0a-404b-91f0-db3853ed34fc CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc6bd207-888f-446c-b4b5-46439b4a8fd3 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81079cae-ba8c-4614-97cc-985733356c9a CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a144a58e-0371-45c0-9353-9865adcdc216 CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf3c529-ef39-4739-913a-a6d3789f9e31 CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f420cce3-778d-4e7d-ad15-abebc8ac881f CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f79f4e-44b8-4023-ac1b-e7bcad337be7 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b12cd3f0-ac51-40dc-99ba-cad2b01f72ae CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e14fc9-ad4a-48da-aebc-a609f6c4ab57 CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 261432f0-553e-459a-9b12-bdb887eaddff CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de2443c-e1ae-465d-827b-8c1cac19444d CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2843d1a-17fa-49d6-85a2-4a5e9723fb8f CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449d69b0-8eff-4ad6-b924-1cd5c322c250 CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25938996-bec4-462c-b5f5-094d38b5cda3 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f6edb3c-9879-4567-9eb5-98b15e1aba77 CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3997b1c5-c08d-4b80-9283-cc908a2e31ba CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0064efff-c6be-46c6-bc35-894bfff750d4 CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcf982ed-09c7-43e6-9777-ee08ead171ee CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e7b492-ade6-4dfe-8c08-1e88d6908fde CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a3d604e-dbcd-46ca-a98e-3dd62aeffbfa CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d192fe08-1432-4c8a-8ce1-cd7658572351 CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b186613-b7e6-48cf-84b2-d36104d3646e CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba0c25a-9ca6-41f3-9aa9-21fd0d6ce87c CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69acd33b-b2d7-447a-8ae4-ba1ba0bb6fa5 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af76440-cda7-41b9-8538-88724c995035 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e987461-0fba-4c8d-9435-69011419f2c4 CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8948921a-7317-432b-8c36-f718c52a6ae0 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e9d76ac-86fe-4456-82a3-4b2202686946 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9c9d14-f642-457d-86af-2cb514271df8 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fc81da0-e74d-4b69-8752-8f28ae6d70ae CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0563058a-e32b-4c8c-a367-b9589ea975c2 CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 434c9f71-3196-4699-b4d7-99c3e558107f CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644cfebf-ade8-4508-805f-932985b32737 CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8618dbd8-083d-4eea-abca-518b64b08bae CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce995a30-4782-4b94-8ef8-482e4877517a CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1138b16f-4fbc-4337-bf73-fc7fa705e841 CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e442f3-78fe-4646-a5c6-fe545885cc61 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd5d61af-e1f7-4bba-bd9f-7313081a5b02 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15276d94-2023-4b97-ae77-3f667cd70d08 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4ac3064-593d-45ce-81b2-ab66bff42f38 CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cb1103-8b59-4a64-92c4-d03eae548cd0 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc6c8f4a-29a4-43f1-8063-ce63217d4d56 CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e67ee9-f68b-4fc4-866b-c78196683a8c CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d95f122-272f-4f79-91ed-43c8b588b632 CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c2893f-72b6-4779-9a9e-87dae23c1fe2 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cdbf9d1-c97e-4c8d-8737-1e03fc53639a CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e820ae6-5cb4-4148-95cc-284be01fb853 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b7114f1-b6b1-47dd-9939-8db7ee136b00 CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc123e2-8b1d-4b8e-86e0-8e7e0853c611 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a59ac21-3cbb-4722-ad83-c864723948c6 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7124d5b-deaf-4e26-914d-4cd6ed57b3a9 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96649117-26c9-44fd-aacf-959851007f0d CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ee2614-1fe8-4ed5-b618-a85b12a2e3c5 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fba2072c-d2d2-4268-82ff-a6e683bd3239 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89048075-cc1c-4190-abf8-dca38f533804 CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 024329b7-b7c1-4904-80df-0c9996f9215d CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d03841-3083-492b-b91d-8469f66d23a5 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02f36c43-9f3f-46e8-98d2-44eb5cc02f57 CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932055f3-75f3-43f4-a150-3b6f5d5ef568 CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70222f36-c955-4862-b125-f16b3c3c1e00 CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2d77ea-389d-402e-a266-6b996198dcd9 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c921d68-64a5-4e1f-84ec-d8d42052d01a CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1706711f-60b5-4050-82fe-08a687514d98 CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2aac06f-daa6-41d4-81fe-38a498229e77 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78da457-6772-490b-af40-dbcb2fdf12e7 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 257d033c-2920-45ac-bb92-635119cdc3cf CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7249823-d2c9-447e-915e-77cee44e8d4c CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a44807d-ba72-4ec9-b14c-168f94e17e13 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3441c95-146b-4a10-9a32-a869d6d4d928 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 680d9a80-9c60-48ee-bc06-70e6a8bd6689 CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9eebc9e-c932-42a5-b6e7-8ffd269e46c8 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69be75af-d5d2-418d-bbf7-9261133d2b33 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ce4abd-305e-40ad-b5e3-f21702e0e2c2 CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2af43647-7aa2-45d7-9b4c-69725d180b21 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f23d46-7d31-4ed3-8c99-f58b1690daad CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5bfdcc-3b06-4e16-b5a9-3a9d60b892ca CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81afa60-f8b1-464b-b07a-395741e769ec CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6169f32-4152-4e46-ae6c-eb05afbb1eaf CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4a4661-cec7-4147-9570-0c32a7bd188a CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fc2d09c-5114-4f6e-a20a-11592bdce87d CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17caea21-8adc-452f-b562-18f469970305 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5339c404-04f8-4395-b884-2d9a4de1352c CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a368e011-d7b3-4614-9627-6a98352a278b CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d8a7cb2-6e01-4f69-9b90-9229365209d7 CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f687a287-f5af-4fc7-971f-9d66cb17210d CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca5df79-6e55-4e04-a999-f53d162cb13d CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26c6507-7301-4f4a-86b9-6d3e740fbdf4 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 428f1179-cb33-4468-a6f7-bdd4a71bf4e7 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ece9dfb-f400-4a4d-9680-6bf0eba805e7 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bffa1374-c974-4fa1-8f67-009319472a93 CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e945933-3751-4efa-a7ac-54b665ee3ad8 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa968749-e227-4782-a4d5-ef2a1abccbca CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e604f030-66d2-43dd-94c3-b2870536c55e CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2221914-18c3-44c7-b322-9ccfef5bf4cd CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6542a6d2-aebb-4319-aec9-d18cfb41a162 CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd95e93-d9ba-4ac0-978a-909ed29d285a CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65774a66-50bd-4ae3-80b7-586b97736efa CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 748c08ab-48c0-4077-b8fc-015bb75f98c3 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19adfd86-3147-4c97-8d2d-649719788cc9 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fb7644c-defe-4347-b063-1e9ccf01e886 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d037423-afad-4f4a-b0b5-ca4934a05752 CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 574c3601-45e7-4556-b1dd-f71dd63f044e CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9086a39-b050-4591-a9b0-3f531b27a333 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3df8a9be-53b7-4a38-9175-9ea9e797f953 CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f988d6-fb7e-4dda-a1fa-3890b87410b3 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 793450aa-068d-4e09-b454-efd67127dc14 CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a6653e0-4b39-4826-9d6c-bf15447d31a4 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fe32e05-f0d0-44a0-919d-93c6d0c178e9 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49536a12-b5c5-455e-bd6c-ec61b949c97e CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3b0589-d174-4df9-be9b-aa35b8a8cb80 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609ed922-d39a-4419-b9d9-b7497207318c CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19fb7de4-092d-4323-96c0-a4ad576cff9f CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554951ef-4a94-4d1a-aa04-0d40638b850f CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98f15736-e955-466f-af42-a8985d503db6 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919f2111-9543-4085-ad5e-8fa1cd654bcc CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fea3b677-9167-4c6f-93a3-2a1866025683 CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6f391c-6f5c-4afb-9c5f-0997ab4ece8e CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffb1c4aa-f96d-43f8-aab6-40f52816d2bb CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f331ff-2f0d-4d6d-b6e5-59db4f60b503 CAID:CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e474ad3-7b35-4c90-b93b-5d67e680fc8d CAID:CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86bcc1ec-be62-4d1f-91ad-5477bc0c408e CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42096cfb-257c-4a6b-8b46-d47c902fd7c0 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfde282-c14e-43da-90d0-1ae9d56aa878 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 996f759e-975c-4a22-a53c-91742ed112f0 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62360fa3-c59c-4fe0-9fed-b9f16d373c49 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 636477a0-6e6c-4645-996c-d74282fe3cc0 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d66404-3f08-4763-90d1-73393fcc3d86 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc1ae814-8eb9-45f4-a012-35c083864bd0 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761fb78a-536d-49d1-86ec-be19f7723f4f CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5e1c3a0-8715-420f-b5cc-5beaf498ffe2 CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df97373e-e5e9-4781-9c1e-9e9316f44cd0 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 995e0583-d65b-41ac-8a34-e045fa8e488d CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29295e24-4b6f-439d-a30c-9b0d40f1f095 CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b03e11b-85d0-4eb2-9d23-c35b28506321 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d1af26-e793-43dd-9b98-ab7ef65ddd81 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb09348c-f128-4917-acde-79d312b91d30 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512b12b6-8aa9-4d38-b9da-91a48f41552a CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dadf446b-739c-4b96-b348-3ebd88315b4b CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1001b95d-f873-4d95-9cc1-9c6e76cef71b CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 754c348e-5401-4b28-be6b-8fe02f6e836c CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6425d2b3-9b21-4513-b0c0-bb9a0293dbfe CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0a46f0f-d375-412a-9991-f0dc0a1abbe4 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4194d4f-668d-41d5-894a-50cdccca3bc6 CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11a645e8-ad38-423e-98fe-cdfe7fe8c93b CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a224f2a3-bd08-4acd-ba23-7d2dd6460b12 CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c54d3248-6c20-4fca-b584-5e798fa8857b CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33255f34-fd14-45fe-8074-abb8cc4e14e9 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fab7a159-c4cb-4f0a-aa80-3092fd4dc82f CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873749fe-e872-4a70-bea3-ed2ea3cc47b7 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7d2a5df-217c-4ea5-b549-ce9717e9d2dc CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cf5354-7192-41b4-9044-0f51197c98df CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 491046e7-92a2-4a74-857d-3aec7dd70d6d CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeb250b-5af7-4d59-92d7-55f264506d42 CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af28753e-8621-4437-8a8c-a50c47834076 CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d1f1e4-d7f0-4cf8-a1ad-e2bda888bc31 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dfc2a14-02eb-462b-858f-38a787adc644 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a7bd45-00fb-4604-af4d-8f96c274235e CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec368bf6-8573-4122-b193-e35570d88de0 CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639c893d-e5a6-421b-861c-a19a92273c20 CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd84e475-94ea-4f79-99aa-7d790189c36c CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c543313e-2fd2-4487-9e8d-6e59c3dcaf35 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e46e2380-4e6a-42c5-af07-6ddecd3f95bf CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959b2c17-7283-4f24-b4ee-c3111e253eea CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 575307c8-e721-4e80-932c-d2bba8a8653f CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b66b7b-ae91-4eb3-baf3-61ca371c2805 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed433206-a80c-453e-a81a-edeae454cd7d CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4c02e3-2549-4a12-9507-510521199173 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24036dda-ad74-499d-867d-766a774afb40 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1002e1-f225-446d-920e-f04cdb880326 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef8733e1-c0f3-4a8c-a8b4-7fb0a5675b29 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f20ab50-b4a8-42a0-9fcc-5e0bbfc1493c CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9036c037-23a7-4010-a10c-22a5bea65b5e CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc9b4b6-d71e-43b3-b377-a298e458816c CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12b70148-bbf8-4fdb-9bf6-5b92c31a3518 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c8bc35-60e7-4bb0-b39f-f42cf2ae61a5 CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9504f382-1e88-4783-a818-ee8fa6904c89 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6610d3fb-285f-4492-8bbe-b6e084a7c39d CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 020fa630-a082-45e7-b7c0-7df2523a26fa CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ffb1f6-83e7-4eea-a2f6-2909325544e7 CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea373639-9e1a-4bce-b03b-4682dddf6eb2 CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f4303a-4b80-4764-9efe-1ca96c560fc5 CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e87495d-f51c-41e4-99dd-7c19dc462070 CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7a8b07-5727-4128-b636-0bd37a7dd954 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f5d76c7-474a-4156-afaa-6bc7412bc3a6 CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52af296c-7833-4de7-bf5a-6646ba3aafa8 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53a5350f-ac55-4d13-b13d-8d573a869e61 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b012c342-b09e-4ff0-8807-9ae1b59828cc CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e5308fa-e792-4a49-a69f-891c83dafb8f CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3fe7179-3335-491a-805c-3f500883dc9f CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 859d1a84-9887-45fb-9838-bef4755bd54c CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7b7655-8982-41f1-bed3-157f69ed5277 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bec187a-f1ec-4e7b-9511-7e1b734910a9 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a05a424-5fc0-4a43-a334-6c844cb3ccd2 CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e14c5ec9-69b5-4804-b9e9-542ffa221006 CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08bf3d85-1391-48b4-98ec-9e67694cb5b5 CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdc1384d-7641-4427-90f3-e9b63d165623 CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457fab61-0f65-4839-90ae-97c640d091c7 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ccab270-8937-48f9-a5f2-4680de0e409e CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f82d41-99cf-49ca-9b39-0f074aa951f8 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e0d62b9-3465-4fd7-bec7-dbbd961c3c1c CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a1fb61-6fe3-4371-b743-cd60688a19f3 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1332ce0a-860a-424d-8c4a-8c36b1f1f7d6 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3019cbd-1947-40cf-a2e4-136037540b62 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f67a5b7e-cd49-4575-8c1a-f680a2d5edc9 CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6add3944-5351-40f7-b68c-5ad9e18aa9f4 CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 326d529e-0937-49d0-a50c-f288857abea2 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5737249f-8286-4b14-8885-58ee0a758a44 CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22c6b119-e903-42c5-8a61-58359bc5176f CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4a0772-6d73-42b2-b56a-60edaa84021a CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d32a4747-2dec-452b-b54e-babd3d662e4b CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a56225-7d87-4f67-8bc4-2076f650d0ee CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dcf74f4-9326-44cf-b5fb-6e8b48fffe10 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a5e531b-e0c1-4248-9831-a49f819a914e CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2975ed1c-7ff0-43f5-b49d-65f732b4cccd CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce77535-68e9-4326-9b7c-bf748512e464 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c0b682e-e6a5-438d-af3c-df12ef312df8 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b022c452-ffaa-4e8c-9ee9-6a5cd6d71f10 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e7888d8-9fab-4d9d-a253-1dbcc9f31a92 CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3676e5-6801-4b59-9091-2d244827daba CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f91b6d61-129b-4f46-b5ce-377c0f8424a6 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addd049b-0564-4a93-92fd-4e78450398e0 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69cb79b9-71d0-4d64-b129-348bbbb206ba CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d772103d-768c-43d4-b59b-383384b82135 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a45b312c-4956-410f-b398-eff4ba1be992 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3aaad3d-d555-45dc-867e-f8f2be2ebdb3 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daad7e7b-b9ae-475f-8bf8-02f5374389b8 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac97351c-8746-45e4-bafa-a0b2d14bd440 CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f689c7e0-2ceb-4a2e-80d4-8cdf045d88b2 CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7758a327-0ab9-4625-97b1-70b36a43bacf CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a80111-907b-42a8-bc89-d21f939c3f8b CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57beb57-de7d-4eaa-a031-13d48efd0a6f CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12b18377-82d9-4126-93fb-a798807cf1c0 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f48484-5bda-45e9-b8c9-6ac871664de8 CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02faa7ff-8f73-4e27-bca6-38fe354df9d1 CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b658038-3118-419e-9907-9df5bdd53073 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f214c092-ec32-47fc-a2cc-d357cb77eef7 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fe50bb-eaac-4e81-9eca-6dc7aa6ca00d CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9941a6ad-8a22-44a9-9c08-b4344275dc23 CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efa7941-5bc3-496f-a1d6-63a4f3031878 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f87370d-5ca8-4f46-b809-fb3b5902cc5a CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ee4376-eb02-4cb9-8f55-d3a537d207e7 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d5f566d-551b-4ab2-b74a-90b0f1ac768f CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf7cffd-4f7b-4f81-8a7a-71cef2128a47 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582409cf-05b9-4946-8cba-50ede56f8eaf CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44341d7-be4d-43ee-9a9a-b43c9469ac91 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10df069f-f067-43a5-91f1-54cc635bab74 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e42c467-d32c-4bbf-8b45-da55a27f86cf CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c45d890-0914-4642-ab57-4822d1828308 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57377398-fbab-4949-b0e1-17fd5c5972a7 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd98574d-9265-4230-a2ac-138d426f4d6c CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164f0e78-3059-478d-a335-57291172bcae CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cad175b-3148-4d4d-aa76-fedbde34dbb3 CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae89a291-56f7-4e2e-9bc3-70d254d74460 CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 439be3e2-5f36-4814-b5cd-89966c757a45 CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21896472-ecd1-4579-b0b7-81a33f2ed6c1 CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67cd8b1a-5d0c-4e37-a09b-bd4e118dc827 CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72844d9-dc9f-47ac-9d77-a21abc285fa2 CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4d2da29-9027-477a-81c0-fdf431e0a77d CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e43627-1063-47ae-886e-c8372461b7cd CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69473e67-d187-4baf-bb6f-44b4154aa18d CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763f6a83-be46-4dac-a2cc-b2a433e948e8 CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec1e81e3-927f-4392-b2e5-739b7669b969 CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6aa003-7a6f-41d0-9bea-df8ba089b05c CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5500ea7-5e85-4e0b-a1fa-26a0e8d669f1 CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6500aeb1-e9ec-41d8-8200-64db5dfe6136 CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 786e1408-1740-4805-a288-411d9a9582cb CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fda889-6538-4d81-bcc8-8fcb8126ff20 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34540d3a-5d85-40dd-8911-d5213b8cb3a5 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d76705a-3d75-44b6-bc86-1e53aae9fa2a CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c3f44e6-ffd3-4a7f-b724-4e0a750681f3 CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e13c166-7c05-480b-8d53-e06e7c68eff3 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df4c038d-2f0d-4618-9efd-ff49231e0556 CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eed2f03-b2ac-42fd-9445-89dd426030e7 CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f97b2177-c69b-4881-809f-23b750ad9910 CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154f3fdb-8f09-4b7d-8231-9c61ea86cd17 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39594aba-4800-4d79-9a6b-2612de6ecb3e CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dbd5847-7a00-474b-80df-3a7e06dc5b49 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ad26d74-e9ed-4673-a764-7608cde62275 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f254efd9-353e-4bc9-8d4e-00489dc165c5 CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c32acdab-924a-4049-862d-e838879ef953 CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550eaeab-709f-4e49-9bfa-219564a596d5 CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57141d2b-2c12-4f62-a05f-9b521581a607 CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ee9333-b67b-4ad1-8fea-8eb9c524f945 CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55caed6c-4db7-4708-ad55-9c90621ab2ba CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276e920f-fa61-4c55-9c3a-8d763c40e237 CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e6b3477-7a16-4336-9591-76ac0905b8dd CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec766a98-9b3a-46e4-abce-4fb29cfe0c13 CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d7ea15c-2723-453c-a666-47f30233d66b CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9df775-77a6-4bbe-9768-5c6671b22d9b CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef63a00-1f58-47ce-a6e4-9ede4dde55f7 CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530240b3-f41e-4ba6-80d9-c3b1638a9970 CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5739e469-55e6-4aad-bdbe-0e947083923d CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bb7d26-b78e-4fb0-9900-3c00825c0bed CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e6545f6-2a74-4a63-9966-672dcb245722 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25645669-ee06-44b8-8287-5c0bd9bb8766 CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56547857-4c19-470e-9f65-63e78c807b66 CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2806bdad-0848-4f11-a2ac-e7fb12951815 CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d95177be-2206-46df-ab28-f8280ba8c202 CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc92e2fb-604e-44ac-a170-3a15e1874e2e CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c808e33d-624a-4b24-bcf8-51cc4c99aca4 CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64460136-b25e-42b6-83f3-2d1f686400d0 CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba49e026-5e2f-40b4-a546-d563373573de CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3fdef3-ae88-4f14-8266-27dddf37e45e CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ceaae4e-1225-4567-9933-fad5322d7aee CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d726fa7-6854-4929-95e3-2de69b9b6959 CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d097e5b1-e9d3-480c-89e4-ea43656b76d9 CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa91c1cc-3fdb-4153-9327-57e6755ddb29 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49af0417-a648-40e4-80f1-e242f3ebd89a CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70f72e7-3fec-433b-aec8-dfdb1f78bfdf CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55238af-d859-4ac6-8d19-d4567933ff70 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8494bdd3-242c-4cd9-b266-f60dd6fb99b6 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3d10142-8c64-4676-a400-12dd864a905f CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49423341-85a2-4e8e-b159-8f571219d0c7 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d17092f8-8058-4a4f-811b-ffe2b2e44809 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f28a90-9cfe-4f3d-9db3-198b3ebce8ce CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2baedcd-777c-40b8-a161-4cc917f8a21b CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d09021-4952-40ab-9b10-443855e299a1 CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efbb0ded-63d3-4e94-b64f-1ffe5f47b4d9 CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae164248-58c3-4c8c-bc81-b5250f8da994 CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c98e2a7-a57c-48e1-9012-33f16c29ae5c CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0a7e12-7a08-4ea5-a067-490f9e2100ba CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1950bfc7-ca74-4d77-bd7f-0c27c5af3c0c CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7953acc0-28a0-41c0-a67f-9ce727328a23 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3f906d-52dc-4c7e-a318-944e4f24e3ba CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5e165b-5137-448c-b09f-49a7120fc345 CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85a05d8c-cceb-425b-ae1c-e026a5792b14 CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530e99a9-a215-4256-b28c-1d9b11889584 CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b679fd7-bbe3-4e2a-9c79-ee6515a92617 CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e67b52e-44aa-4889-b9ad-923a17bf1aee CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0f21945-ff41-4d1d-8e53-6ede49245a32 CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ebf0e7-e6d4-4b8c-b333-95bab41f6b75 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45f66416-b9e5-431d-89ff-8c6f164e7693 CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fdf02af-1ec4-4bcb-92b6-07879b9911f0 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa34f988-cdb3-4b9d-8d02-b86b65d0aa8b CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c43103-2ddd-4f81-a59f-d27a6814f463 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff4d80e9-6d39-40b3-896a-781142fb221e CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd567cf-6a76-400b-a295-b28a7140243f CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e40de01d-5ca6-41e2-8110-91a4922968b5 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80771fcd-51ce-4e4f-a2a3-c9a808fb80c4 CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fed211b8-26ce-4dc4-ba18-e5a3c1afc73c CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2e2772-4ff7-4cce-9829-cdf733aac513 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79e34318-9082-4697-a928-98c0d29e6c5e CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106284b6-6bed-4538-9133-59b2fe566ab1 CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 726a2c41-ceaa-4a87-ab04-77c3562f3c42 CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de92bd16-87ab-416f-aa40-ee411af73618 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee55eaf5-3d8c-4c34-b51e-ff575a790a82 CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2708f502-ceee-46c1-b475-c1c066475c1c CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c0bb824-4141-4632-a8e9-74f86201bb27 CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed387809-8560-42a6-b6c0-e237e62e0b80 CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bffaaf0d-4f89-49b3-8b9a-54920ca5258a CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f476a542-6c78-499e-a2fb-b5f8436f697f CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 736e6264-c631-442c-a11a-f999383d49e0 CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5a63c6-d099-4f81-a1b0-34a7145e8b09 CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 365e75de-5d2c-4fd5-a41f-8ca930df44cb CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0833bb-ddae-4f1c-8865-42588ad19a3d CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 416feba0-828b-4f98-b770-4a632f4798a6 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ee590e-0498-4986-be53-b339120d7484 CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50282a69-b880-40c8-9d4a-b8862b0a32ac CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c461412-0757-4479-b05e-5fa9a4d7b7c3 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28d8d68-96ee-4edf-8f6f-d19b543f3030 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a856629-480c-4c7b-959e-e12777412e5e CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 173ba696-cb2e-401c-b7e7-d5855cc1e2b2 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac2e12f-5e64-4636-babc-4e041927b42c CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c1d9590-b436-4736-b1f7-9d84af305b31 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bbe9ac-eb35-4aa9-89e6-3d5512d29111 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cadba7c-28fe-4717-a1b5-737bb13307f8 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f7332e-ad11-45db-9bf6-ce8b31d3050c CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58f465db-45c3-44c5-888a-debb77355c34 CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f474aa-519c-40e7-9bfc-704fda83f51c CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen decde9be-c089-4af2-9dc8-72793c38035d CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fedfcea-5deb-4387-89ab-14c5c6fa1242 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 956d70a5-a344-48e2-8772-9b79e851567d CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c633db85-39a9-467a-a875-db7e1ac656d6 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d3eabb7-a44b-4f63-9a2d-bb8d497d87cf CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e910f5-505f-42bc-9285-a40bbf8dd83c CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6406fff-64ca-4408-abf3-1aa3f734e26b CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e6feb0-5add-48b8-915b-35fbdc5c637e CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de45605-a0fb-4127-9ddb-f2262d692a4a CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ba4200-4bd3-423c-b552-af684a420d2a CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02a106e7-cc30-4b03-9347-8a2ff8873604 CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7044f741-4b0a-41e1-bc66-be02d40f48ec CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb278efd-5cdf-4d87-b0e3-9248e6923a7f CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d0a328-bfc7-489e-9969-a62114a43fc7 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5a648e9-e77c-4764-a020-454a3ee9d137 CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46e0f87-ea5a-4742-ab05-68709b8be68d CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d5ac8f2-8bc2-4d2b-beb9-90d6c3ecd8a2 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ccd78a-c8c6-4167-a68a-d79e74a3c6e9 CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d832c77-96ba-4922-9e3e-ccf736f2a834 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0dcf9fd-ec7f-40d9-ae6a-49066bfef92c CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adc15b61-896c-4769-8bd0-755b445a7870 CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d627851-f64c-44a3-a824-8ffdab55418e CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8794acdd-0547-4580-97b5-c35a5550cfe2 CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f4792b-5bf1-47b7-9c8c-88745cfb2700 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4910986-a51c-4df9-8c84-3470abeaa777 CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699b216d-e3bd-4d5f-841b-b45f286c4853 CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c349c4ef-ad3b-4460-93c0-ae812c47e03a CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c9d0c4-38f9-47af-9a52-9e1e8e59c978 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76246838-c559-4bdb-ae97-d5e7f9790100 CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456334d6-9931-485c-8ddd-ea02f5c460cd CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71980bed-db63-44b7-8f06-cbf41d829050 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ee0e37-89fe-40e6-9a25-d59699b08c94 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7307a64-6753-4214-a1e1-0e0a490b2e5e CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7473b9c-a053-4642-ae05-8d55089b626d CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f07d618c-899b-4daf-8e6c-522473746317 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3eb2ec8-0103-413e-a9c8-0bfc614a5358 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8964c495-e194-41bf-875f-0e66e76e07ec CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f43c51e-6f40-4cdb-b78a-ceaa96d8de37 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70c8aa78-8a84-4168-b5ef-3acee71cb33c CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec132c94-78ee-4c8b-b2f8-dc9a98b75949 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4401aad-f01c-449c-aa78-958b3ed22779 CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad65ee58-b4e3-4ccb-b91d-1dfd9147872c CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1df274e1-9e8f-409b-acea-1f8d5c24a85d CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a092c5-867c-4f48-8c24-84851abf2141 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af066511-e682-4a83-999f-d3fc66b5c6dc CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5dea3ac-3a83-4c17-b9d6-6b435514911f CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63a7b3f2-61e2-4955-a7e4-6b8b8d3949e0 CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c221e0-d717-4201-a6ce-9d4a26623993 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a885c753-5416-463a-a5b3-32c8c983b94d CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2af978-2a4b-410b-ac7f-eb34d50492f1 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1270a589-f154-465c-8c12-f2b733f497d4 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b321f5-2f30-4f3b-ad18-1654372162b2 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c010fd6-6fe2-4c49-bed8-cfba49537407 CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73974f8-92b9-41a1-b2b5-62340bc49580 CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 406d1597-580e-4675-b70b-4b68dd154252 CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e854704-e8f2-441e-9d5e-ee1984b02ca0 CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8530345-aa99-4359-a46c-452a388d5762 CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c49c7c3-7949-43ba-9a45-5ca65b9f5e29 CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d829737-1137-4703-a3e5-60cf08501e8a CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc6b6ef-bed2-4259-83c4-938d429e03bc CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98e88950-b7c6-4df5-8624-657144034a69 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7baf0cc-75aa-4fdb-9165-90cabcbe83f6 CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39910154-795d-4b87-a6c3-550f322264c5 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c37785b-2cff-4264-bb21-04043993ded5 CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a594d83b-09bc-471d-83fa-90a86d70f266 CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325dbccc-8ea4-43c8-87ee-f46490954c60 CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3b1ffe1-7edb-4d5f-a6c3-e8728f50a13b CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4dcdaa-80ee-4265-a45e-7e3efc12c9c6 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63d131b2-a833-49d2-a76f-93f832e014d9 CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b99de0-9967-4b46-9e89-9356e776368b CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57a1f2fd-d1e4-4f8c-a322-62828de93413 CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b610925c-83eb-4798-b443-3b7bc8be22de CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97af51b5-9118-4517-b5a6-c297fe30413f CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ab1f6a-7efa-44b7-ac16-2bf3c4eaf173 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 952baebf-8918-4b51-a2cf-d3203fa8330a CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f41c289-657a-40d1-a2e2-2172a0869a00 CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2912ee41-bfe6-47e7-9f5c-3f6befcb4e2b CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc38365-6a9d-4616-a600-062fd40357bc CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8872903d-a729-4acd-a885-b736cdff4cda CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ddce240-b410-4bbb-b909-6ffb29e09f4a CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8d47e8-bf75-4ca4-9439-8d95d779a1f0 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c03681-4036-44b9-8db0-fb2ac328df33 CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1283125-bdac-480f-9591-f7e6f816514f CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba84d37a-3c81-486f-8901-7cbd3df7b420 CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af6d80b5-21d3-43e3-a4b8-d007f582d61e CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0b0815-8466-4ceb-8cf2-cee0729ea410 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f4c1651-4f8b-4665-bef7-f06e7a747b4e CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c44f6ab-fda3-4dce-a251-2e999d67d467 CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9851b05e-3752-4820-bb97-42c405b747f0 CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a786e26-36b4-49da-854d-452030ff03e5 CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 603d2eac-4f88-4ca3-98ab-cf91e6625d19 CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80b668a-bdd7-4fbb-be0d-a0db9fcebfb9 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa69389-d876-4768-aa20-e805e3709a1e CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3fe554-91aa-4826-808f-d1d1c720c129 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3356771e-07a7-404d-8518-948569bb607a CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9e409c-f313-4933-94ba-d08733c27fde CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed57fbd9-df7c-4a10-bb01-195f033347b7 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55ad4f7-f684-4baa-8a67-e6df6998fde7 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f607043-9476-4e34-b292-52da4640ff40 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d44847-f66a-4b1f-a73c-b1f920568752 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d24dc04-cb85-4caa-bad4-31294e27303f CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8051f12b-9dd6-4dc2-8c4b-34045be7281f CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43219c61-f63c-4589-bbc0-04fa1d8e7749 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abcc667d-3782-4fbf-8046-c37d8d1fd5ce CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 290b743d-798c-4770-adfd-fa4b177d5b36 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196b2b7f-a190-4237-8bd0-b43e97cd6e56 CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e17c23e1-dc77-4bab-afd4-36a0219532a9 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a992e92-eaa0-4ff5-b502-4dd8c9998df0 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b41b516-0615-4cda-8b27-49115093ad7c CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4b0e29-9e99-4da8-97b1-790cb22e4d4a CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d30cfde8-9cb1-4f8d-9020-b7601c2fd511 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f8dd0d-4826-4b34-9e4d-619918877dd4 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41997427-9b42-4a9e-82d2-99972b6bc64f CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e95aa96-432c-455c-8d03-44f49146bbd6 CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a06759-0ed3-4022-bd93-11fde8741013 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5512f45b-0993-4508-b988-debd40eabf10 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1d8c099-c244-4f38-b6dc-d6224b812526 CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cd82ce-36b4-468b-9e49-c387e5d8e6f7 CAID:CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02481965-da4c-4e70-bdc3-b71f33b4e1e2 CAID:CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d387c73c-b5ef-44cc-ac76-b165f2921019 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b418bb7-560e-48a5-bc94-87bdd4dd1725 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663d0ce5-5094-40c5-8ad6-45abd6ee7c4f CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ef43d25-5a5e-436a-88dd-b32b29938d67 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b44b412-abdf-4ac0-9b0d-2f143cd8ec32 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35dcf6fe-4a9f-4b24-8bf8-847165665327 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd56414-a296-4c87-b56f-9cc7a69847e5 CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0b801e7-028d-402e-a734-03a151140895 CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0796847-d831-4aa5-ab96-72eecec167af CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd7e5a4a-b9de-400f-8386-1534faf4f983 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bebc695e-d6e4-413a-bbe9-e1ed3ca8e50c CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae667a03-7642-42cf-9606-2e082acd7088 CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28695d07-d5ed-48dd-8f97-e1151651d6ad CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17f00d15-b835-4ac8-8884-587267a1f70c CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a391edb5-b5dc-4e35-b835-9593c2685603 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d91563a3-42ea-42fa-8f85-da05c8205f94 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e01019-eb9b-4142-9f3a-b453e12ddb69 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4090ca6c-b6b1-40cf-8215-9587b1d331da CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062e1733-6739-469d-abc4-6fae9dafaf68 CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f18fdc75-e175-43d3-8f21-d9d46f976743 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c5deb5-c884-481a-9de5-5470841f301e CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53ee3096-6b53-4c74-8dfc-1902f87c71ea CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c04ed42-d7b6-42b1-9583-0f59bbe2e2c8 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8c96f20-aa89-474a-8dff-e10e0d55a6af CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed838f6-db87-4ef0-afb3-4c74203aa98c CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68d317b0-7cf4-41c6-a260-c4c5d9fb4f93 CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bd46dd-9417-4a45-8230-5da35f87efbf CLINVAR:3358853 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen add1a2fa-644d-4769-b2b1-beaf37b6f785 CLINVAR:3358853 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c99319-4902-4987-a2a1-3383c8654816 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8397b33d-49c1-4b88-9566-2d2eb0cc5c2a CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0f6d78-5b96-4fb7-ab45-801011a5ce06 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87884ec8-9026-49e4-9e73-daf22d453ab8 CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f3f8d0-283b-46f7-aae2-fb0d15f1b4aa CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f9709cd-de01-41c6-9598-a706a912e6f0 CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521117b4-8228-42d9-bce1-68d6fba8bc81 CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 117a6da5-b1e5-428f-bd5d-d518bd4833a8 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dabe0b6-3b26-4a76-a526-da91d86977b2 CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d999987-563d-4f9c-a024-a542b28ff8c5 CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d820352d-6c8a-4f94-a629-cd9c35cb0821 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61b023b2-3917-4880-84a1-dd4ad45b40bc CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a6c1cd-912f-4f34-a546-d1af0f2496af CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddafbd09-447b-476c-b597-6af6437ba8aa CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77814a7-1984-4bd9-b9ce-96ff85676450 CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3460fc88-ed21-4d4b-9b25-e3ae48542f3f CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808341b9-3d5b-4651-9f39-2870f2000105 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 751a0ac7-256a-441f-8907-e04719c2ddb0 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4fa0ed-b332-4e0e-b875-ca1df3c379bd CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bbdde26-aa05-4338-848f-36f42d53d232 CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e208ae-80a8-467f-bd53-b72e39a32ae3 CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 563abb9a-9659-4e6c-b2ce-5b884b4304af CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5855844c-6940-4db3-8bc4-9c38558f002d CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8f5cbb3-555a-4a84-8ff7-fafda1dd5bd6 CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31789f0c-1e0e-4755-96a4-d75e2e7b20e6 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f819c46a-33f7-41c7-982a-a5c0362bdd9f CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c072ff2-bd10-4dd8-bde2-6f7e1af01fdd CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a77b302e-b540-4b3c-92f1-a0b00478f5a3 CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32462ba-70e7-4138-9ea1-2af6d85c1835 CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c8a0232-062c-4668-923a-1ee57fb86983 CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700579e9-325e-4738-956c-fc7971cb5c39 CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62f51922-9c34-41a5-9ffc-819c0ee1bb65 CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ee1353-ab89-4bb9-b510-f1889dc45a4d CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93b1b4e6-5d35-49a7-9f6e-163ddf9d1991 CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a874c810-64d4-49f2-81c1-f9ea82fb3f6b CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35ff51ff-7ba3-454a-92b4-11c24246e53d CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210657a4-29fe-4aed-82d8-8ba56875db5a CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18dd9474-cab3-4dca-b663-0ff020bd7e90 CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae1d94f-fceb-4e95-9d99-e92f7d09363c CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cadd03f3-56d0-4cd6-9f2d-009a0bd30e7a CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b4dd96-f542-450c-9e6b-16998130b668 CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e61d7483-d400-42e0-9b47-fed43a66cebf CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9bbc43-2755-4f75-9e48-558ff80a2793 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3034ba61-9073-4853-abe0-cfd208a13d8c CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174fb8ac-dd9e-4718-bdb9-4426e17401bd CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ae7f44-4f78-4c72-b342-b5c21980ff48 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d22a5e-94b0-4863-aae0-5acba4ad3083 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0ae6671-6dc1-46fc-b3a8-a9e525d85e60 CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05fca20-a2e1-464c-9854-2fcb40f460a5 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4eae675-b921-470f-94e9-d03a47933ed8 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ce8e27-ec7d-4c8f-a2c4-0a2ab8b2143a CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 207d3967-b01c-4f7a-bf71-e4b14711fc86 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27839165-68ef-4363-b3cf-fcb9b90e3cb0 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44a91612-e7c0-47dd-8e12-a4e992d1fdbd CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70931dfd-d479-409e-878e-efdcc06ffbdd CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87dc98c1-1de6-4ea6-a3a5-16522e631f4a CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5384f53-1192-4839-9b96-1fd998324b7d CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42c61c8e-95e6-4985-a38f-b811c8625bd3 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f529be9-e85a-471e-84ee-74b0f87c7c68 CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ce6c34e-a3e1-4111-9fc2-65d1eae32904 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2267f5-45e6-4295-999b-cb38ed0b3d18 CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae9eb68c-4991-4d0f-9723-a08b0fa6b8fb CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89bf56a-547a-4ecb-b59d-36ee64806e55 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b681601-7f28-4417-b692-440fd1cd1bd3 CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a387bf-4aa5-4d8d-be4e-83023683daf1 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b516fb13-c9f4-4356-9518-aea4f2b62c94 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74bd396-42e2-4bb6-ae36-c0c29fd91d44 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56c1c6f5-f52b-450a-bcc7-00774df7c8dc CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89f51ca-8d06-4368-8660-bfe66867f82e CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82bf0f13-4f6c-4877-b9bb-5428695a8098 CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea211a3-2562-4db3-b8a8-8bb711283973 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c8bf06b-eb1f-4d56-a0b4-f9687a735250 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c304a21-d775-4a05-941d-bb10201272ca CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0b2fed5-7731-4637-81d9-372c08ffd167 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5872397b-d02d-4fb5-9384-9dd30adf3829 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 982b1a78-cc0f-40f5-abbd-c03bc936e98b CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586d17b7-3d45-4d23-97a0-2110c3721a3d CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fa876b3-88c8-4881-8c01-73b237ed238a CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe72c54-fe31-4eb1-a0de-962b18de1bc8 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 475ba13b-f5e4-4586-8c72-033dd9a94798 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8563ef-667f-490e-8ca3-de6d9d39da96 CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10def4fe-a5a8-4f4e-b1b0-587b3199a332 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e75ab7-3751-4a97-b830-894dffd49eec CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47bf79d5-c65b-4312-9586-b3baeaed2403 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e62afcfe-0f03-474f-9ef6-bfc4d779667b CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c0524b-df25-4994-a5fa-e683258a8011 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5598135e-deaf-48da-a344-ee073ff0d566 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d106229a-dc18-433d-a7c7-e69a1c2003f5 CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a559b4-6662-41bc-86e2-bf9410536109 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea77082f-ae1f-427b-b837-4815a1fedbbd CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4327a04c-45ab-47ba-ba78-99d010de7fb4 CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e97ddd9-fa6b-44a6-b709-ddcf0c415ea2 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd27c7d1-826b-45f0-9281-94d94b968b89 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01b9f19e-bcc6-435c-891d-5e1b2d08080a CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086f4805-a114-487a-b8e5-e0ce07d81934 CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94f30ad4-5de7-48a2-8339-1e3f12f8cce8 CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65bdea0d-9e9d-47e7-bac4-fd45183fb403 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7866de2a-ff9e-46d5-86e8-e94c8e84016f CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6ffb2e-c64e-41d4-a9bc-0cdd46f98bb0 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01b88cd2-f134-4592-8f89-ef46b29c6697 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7f4a38-abc6-4c93-a1a6-e5f5bc54fd23 CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c118ce9-ca83-46e9-aabc-f3cd84ec4593 CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a977eaf7-9936-4253-8f69-01f7b50b2ebb CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f54634c-793e-475e-929b-1a3a0904c452 CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9bad6a-d0a2-4ffe-9446-435cbfc5b11f CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6bbbbb0-610d-4a4c-9f3f-712fa137e2f0 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598be777-f61d-4776-babf-487cf125a79c CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c08c48e0-1faf-49c0-a047-243b20a81a09 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686f7c05-81dd-4a5e-99b5-de1b5e799901 CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4730d8bd-81ca-4009-8ff3-7e56d2161581 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23621d60-24f8-4430-9057-5aa94c8af74a CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 595accf2-0beb-4cd4-a810-f39d2413fd46 CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771bfeb9-f32b-4a36-9799-20927d8a48de CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec3a5084-c119-478e-8108-04189145b0d4 CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4dce2d-91ba-44d9-b5b7-b6f252703424 CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09de9c66-610f-4edd-9b0e-0d673f297229 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd25bcb7-bcde-4813-a6fb-c2d9d23dc124 CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5390ed89-3a8b-400a-9337-6cc4005cddde CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e907ab-4f8c-46b8-a650-ebd1848b1106 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8e45ce7-c1fb-415c-87d9-7b7dac865672 CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46d12c6-862c-408f-87de-bc4b89644c75 CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a6bdc64-8e8e-4b1e-a793-7cfe4f6ecc25 CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d9cd5f-48ad-4a28-b444-77c08bf23003 CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac2e8af1-1787-4e3c-8d99-234fe5e679b8 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed5c565-cf67-4040-89d5-be8eddcd64e4 CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f09c161-cc4f-42a8-92d3-a88fcd1fbc08 CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc5f5fea-a2fe-4916-9d49-36e5ca4497e7 CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd8d603-85f5-4c53-a87c-4b67bfc7368e CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a083f520-991d-44cd-a649-f1d4a6163f0f CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd6167b4-a4f8-40c1-83c7-999ffb8eff4c CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96580f3a-2cd2-4e7c-929f-376e0296a3ef CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60bc7f79-519b-4a72-adc5-5a3c9ce1eea9 CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7427468f-4ff4-4b61-a866-f4b7b755779a CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2bba40c-ad5e-447b-aefc-e6aa1c1da969 CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3a5935-266a-4033-8074-258671a95b43 CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 466b480c-12c4-43ee-aedb-b679b4db66a1 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5d6e90-449c-4c9b-b35c-354d841ee643 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d12c08ca-693b-4535-95b4-85663acd595f CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d23292-afc5-471a-97d2-160de79814c3 CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eae2519f-24bd-4fa3-a3ad-a79178020fef CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e500dca-ce9b-458d-86b3-c661b69b2df8 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36231fde-0988-4858-83ed-c1c08027d06c CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d562d32-2aa2-4949-bf2a-0a3caa9dc032 CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ba2d5f3-0aba-4218-933c-96748ea2312c CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9208ba18-b266-4cde-a2e0-136e96b8670f CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25e0684a-b8f5-46e0-ab1d-fd17dbc9e3ac CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98bf4ff-0b33-4f92-a556-8c0112cdd993 CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d82f4194-2ec4-4d80-b0dc-f43bb1a001cd CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09cbdb20-788b-4d5e-b3f4-5af6873ad162 CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73ede43b-7e81-45a8-b52e-07a044d50657 CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515f3ec2-4de0-4567-904c-6e2de38965e2 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9205aaaf-3540-4715-9da0-80fd16755266 CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280b0c93-cb4b-4eac-9958-67c2edf60da0 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83be2547-b98c-4ba1-a2bf-f6c374156c29 CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70eafaab-cb55-4d40-81cd-28ce8c0c31ec CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd4d2424-62b9-4c08-a851-d89bfe7c3714 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20a66c1-b697-45f1-8e9c-f36f513284b3 CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d460e8-a1b8-468e-9c66-c95171c1c9d0 CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e82aab55-5612-4d89-99f1-7a8e25b74afe CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da4052a9-7ae7-4176-af17-5759f85934c3 CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc169a8-6eca-400b-8a26-cebc6035a543 CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d56ec53-b27a-4467-affc-e0d193d93d1a CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c351e5-330e-4403-85be-8831d6cd41d0 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3488be69-565c-4bc2-b37b-0572860a6324 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820a89ac-1e82-4f9e-bac0-c7b8df7a1e94 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87c7a32-6f15-43ce-82e3-dd7e4b89df3e CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6042dff0-3c8e-4bfc-8a2a-cb95c7e7ef86 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 932e0be0-e283-4389-8295-d9e5b91b69f4 CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4756fc5a-e0a2-4d7e-af1b-2f82abf560ef CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6ba6ab9-68e5-48b9-b6f8-5fffd97ba79e CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac43de1-47d9-4bdf-83ac-302959561963 CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 724b5ff4-711e-4097-9fff-d20fbbd6e3a2 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f10db5-369f-464c-ade9-1e7b466ae078 CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da0d2759-f7e0-4f81-80d6-c3e02063eb28 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce3ac91-bfb4-4b24-b84b-9af0b17a5cb9 CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d44a479c-00f1-4fef-9649-25c23a42fef3 CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63d4c60-4778-47c5-b44c-e98adcd5b999 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0257f0e4-d847-4019-9da8-6a0b3e6d84b2 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a55e813-7ca1-4bac-b760-105dc824bbc9 CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a7d43f6-7615-4c5a-8f5b-89c65fd355ca CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15179a17-a5c0-42ff-98dd-3db4af628dc8 CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdd921a5-a41f-4775-9404-0a9405e4f308 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27488ed-29f6-4470-b9aa-601c7dc59bf3 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4750dbdf-05d8-4eb5-9b8c-b508b536c65a CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8149b233-5f3f-4789-9c9b-b3e8204f1dd0 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c882c5d-2852-485b-a280-9b8e8e0b80c3 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63072773-5f13-4cb7-b06f-9bd55a52629c CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0691c64-ba54-4b78-9ebd-b53288e45d17 CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3f44fd-911e-40d6-91be-e6d2bbdf9d94 CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65d2332c-a08e-459e-ba14-af9db8c30226 CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3171dad5-5cc2-4386-9665-d65bb26df17e CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 039f8f70-8ccc-41d9-b03e-56208cabba02 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6732490d-b2b1-4d74-8ab1-54e4d50bdc95 CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6717e35b-228b-40e5-9c1d-c9c655b28293 CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881fba9b-2953-4ad0-9eda-fe80bf3eb163 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74c1afeb-a01c-46cf-a700-1ce9bdee0edf CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ef2bab-1fa1-42ba-8046-c005976fc0bd CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc1f2edf-471f-40a5-a900-ed679425eec1 CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f0839d-0ddb-49b1-af68-b3e9c62c9c06 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcd87b97-38bb-409b-8679-c5ac495ab061 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0cc04f-ac9f-475b-8483-52acd3b7f8dd CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6296cbd0-7a8c-4f54-83e1-5c112630ac4a CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af17d57b-aa00-4c30-9bfb-49d9c8452aa5 CLINVAR:1128874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 183e468d-eecd-47f0-a05a-edc299ee39cb CLINVAR:1128874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee311f74-b5f9-4048-8557-e25f12a0b7b1 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f10135af-a1ad-44c8-bd5b-caa2cfd74a29 CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8cc8f1-b545-4044-9336-03a1de2ed512 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f444b0a-bdd7-41a3-8373-068bedb6302f CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d50813-57df-40c1-895f-468ffd90fc7a CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f531f2c1-2f40-4c0a-b998-1388f19914d2 CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a761aa9-3df7-4464-8224-c614551d6dfe CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4693d2cf-7ca8-4628-bdeb-c092810ebf86 CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e1bdbb-10df-4500-85b1-a966147820c6 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3dc9389-0fd6-4178-9e9f-3f2e095d3cad CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32abd3b-32d2-4d52-8a20-f96ea369f6bc CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2682b141-fab6-4707-89bb-ce7926f75fd8 CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c057002c-7ec3-412c-84c0-f44136b52636 CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13243041-68c1-4604-a43d-32d5328bbdd1 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81899b70-9011-4bcd-928b-9c45d9dbd19b CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1268cb2a-1805-4554-abac-0df6a5a02b04 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1f2520-4a5a-4b1e-8a09-512ecd738ecf CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d633f8f-2a9c-4c36-aab7-4d2fb0251c49 CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0218d650-4940-4c3f-bbcb-1174c165822e CLINVAR:1097518 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5753058-6948-4ad1-ba6e-e63062226aba CLINVAR:1097518 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c8a52b-4b84-4cb4-bda0-2299bdf1e655 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98a88024-f6c4-4f4e-8817-3a1ac5ddebb8 CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39150b52-5dba-4637-a605-840e384d9550 CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e220a22c-5011-4270-a3d8-fb175ba91305 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8f1419-6329-4362-ac73-b5b9f8a8118c CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85983f85-75eb-4b31-91d3-e0af0001d873 CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1459f3d3-255f-4963-8a4f-eff76ed8306c CLINVAR:1094989 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb6eff7e-ef52-4de9-9134-14bb1878801c CLINVAR:1094989 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa8763d-ef0b-4458-a295-cd51510100ca CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5423b6f0-65e5-44bc-aff1-e1b71f99edc4 CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534cd6d3-939d-4959-be69-b1ae17c9e2c7 CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f0d5bab-2535-425c-a891-f43fb889643a CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3229fc-30c4-4ee8-a3f2-62e6e03d4eb6 CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a429c832-475a-4c1b-b18d-00fb7d12c551 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5503c567-c772-42d3-9923-4ad1e33f54e1 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e88784f-b62a-43d0-905d-d70ce89f944c CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9742f3-3592-44b4-8705-bf1365b1df7d CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7af58e15-d0e5-4d21-b9f6-90fa100b5060 CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9727c2b8-8f4a-4168-972c-026c5700cf18 CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1352697b-6919-4c3c-97b8-fb1dab9649b0 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493d7833-0729-4f9e-a1d6-eb66820d67b4 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c1c5725-cf69-44dc-b806-8cb9afefabe2 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4244d116-7113-40e6-a1fa-9c4f40c80ecd CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb46b07e-2e77-4564-b941-3795337e8536 CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305aac3d-3492-4ebb-848f-6cde01b6c746 CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8ca2adb-4eb5-468c-bf80-aa40e19bddec CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1bfda8-a349-43ef-9369-e7ef9cbd09e9 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54564eee-dd18-4774-b091-53134eaf2d74 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8ab775-2b75-49a2-a7e9-b339c88804c5 CLINVAR:1156194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ce52128-83c2-4a33-be9f-195ed60f856c CLINVAR:1156194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e136f37b-b257-43da-b0be-ce0768657e8a CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4873311-46a0-4ccd-83e5-70cdc8d967ac CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef9de0e-5e26-4de9-8e15-6d5bcc56e1e3 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44f0db48-ce52-4e24-b4f9-bdb5981b9344 CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8fbb38-976a-4a77-9593-e8f527ab5541 CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c339f64-4a7f-46a8-9261-50c2e5edc840 CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469e82a7-09ea-40ad-9710-1adb66ba4489 CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56b11b8e-9ae6-4f59-9d87-5df93677796c CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce4f6a0-b831-40e9-a8ec-097361a6f5af CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db01a6e6-fe53-4ab7-be06-55aee214be29 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488e8290-10df-4a3d-9d97-cc01a97a10fa CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 621d3d28-8920-4aaa-974b-08d42d8049a0 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe606cf-04a1-42a9-bec3-7e7916246c79 CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97268bc5-d8e9-4d93-93a8-70087ff65e7d CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8526e389-9aff-488d-9111-08d5db4144e5 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6296b30e-9f8c-4f90-85f8-5f58a3509607 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afff9f8-02a1-4842-9098-fcec683a49dd CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d978a13-d5c0-422d-9771-f02b570783b6 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfd0774-ff60-48ad-af9e-d03d9b459711 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77400f27-0359-46f9-baa8-1f947ed212ea CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c845a544-eded-489b-af87-7d35bdceecfd CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63446d59-b86e-4b48-aafb-9815c28c4f76 CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad4c4ea-0c19-40f1-b249-52f63897e58b CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd69c33-8b80-4545-bf72-54876b8be946 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1697c87-c48f-42ee-a947-3d672219489c CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ae43371-1334-48cc-a9fa-d8056928e570 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb94e276-c198-4eb1-b3d8-a18b792f01ce CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f764588-567e-49c1-ac9b-72dd90720cce CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131e4543-dddd-4807-ba58-927aac60192c CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f65c945-7e5b-4a42-bb45-5e72ae3a7e0b CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fade2d11-4bc7-49b7-9d39-5a27453c7b04 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 192c434d-018f-4cdc-a6cf-f95f78bb46ee CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76c5c28-02f4-47c3-a49a-8da564d86e31 CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 083e0750-d6ed-401e-af7c-980b5fa2a5ba CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f778da-8bf0-4ac5-bc0c-ae3994847ac5 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1fd7587-5de5-47d6-85c4-a1fb326a9900 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247a4106-ca96-4d53-919f-a36248ad90a0 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b98c0b21-8677-49dc-8e7a-64eaa15ddb39 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cce4c6-59ed-4f33-bb7e-4ba08505eba1 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98404950-e427-4931-891b-bb1933563df3 CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d76156-e8f0-4c63-b361-6d9c83b96f1d CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5093a6a6-b602-4511-964d-7a8031629df3 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ef9bb0-b22f-4d44-bf27-aa734e42ef98 CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31a2646f-2f18-4bc0-a13a-b8949d9d9907 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1c40f5-40e4-4d64-8518-db7449f6e719 CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8fe3c38-bb2d-4e9c-ad5f-6015e73b35cf CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6249ddb4-9027-4470-b522-b8d51245e189 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 703601d6-6b28-4f16-9eda-758a26da7afd CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb4368b-4ce7-4261-895a-bc4f18d7f0c4 CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fb488bf-be81-4f20-9fb6-8cd229fe2235 CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1eb8a9d-6947-4a85-8d35-3fe27687eaf1 CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 437738c0-62ad-4a57-b05d-06a76d141bda CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02b14bd-5bd3-4759-9e83-5ad720b86e8a CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea0e77d2-ff12-49af-962d-ab20a19a427e CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d993ea81-928a-46cb-8efe-401ee5183f37 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eae1ee5d-6247-4405-981b-1c95c26ae438 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45747627-df7c-4d81-8737-cba88c1a6482 CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8228b9fc-b225-4465-b857-b18bfab0bab0 CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8b130a-9cfd-4632-b895-96ec900ff849 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b369dd10-258f-4de6-9157-9b07bb664c3f CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d23378-0764-4d82-9f9b-59df745655e4 CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c27499c1-6454-4081-a877-6311584faeb4 CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7afc6b6b-728a-4565-a9e7-d04b16a14b07 CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8a0fe0f-ebc4-46fb-b02a-6896f649e0e2 CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f8993e-bdf3-40f4-ae5b-0701fe1674f6 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen babca3ac-3d53-447c-b53d-f4966caf0477 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d16f857-780b-4579-a9fe-b9a6f9aa3db8 CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df5e639b-9e3d-478a-9d57-d3c71509d3ae CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a92528a-19f3-4270-96ff-411777a6e502 CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0b57d16-d64f-40e1-b919-cc3f2c6617d3 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9a70c0-6c51-4c44-bca6-99c728e2d757 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a06c8db-5c6c-4efd-bb86-d779fcaac7f0 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3483fb3e-6692-47dc-b1b7-ecdbfea8bb9d CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 708bb764-b58b-43b2-990c-6a08006e7fda CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36fd01bd-6c80-47fd-b8b4-f908913de679 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e61f5a2-87ba-49ff-94c3-8a6991544d1e CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99233b06-530b-4b1b-ac42-c3873f169d75 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21103be5-8e2a-46d0-bee3-0d9470921780 CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2fe684-49ce-40ef-a17b-75c065883c0b CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88448d79-5396-44ec-8e4f-b8966c9d2f8d CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6902a2e-50f9-4f6b-b370-b5d021422d8c CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edbb6692-faf4-4207-9f21-190ccb4bbf2b CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81937180-330a-40ee-b0b2-7df962c5612f CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10784a98-c3bd-47c1-b830-5b7a9739f4fb CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b432ee-3244-4686-99ad-9d11b31ce761 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c8ca781-e2f3-4725-b2e6-8a8d178b4e55 CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf5896a-5d99-4e1b-a80d-5830dcf82985 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c464f20f-96ec-4391-a0b4-8f699f176fdc CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82646d29-2937-49c7-98d9-30a16a97a76d CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc6143ff-2363-45b1-896d-5aad80308905 CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6394b20a-6386-4602-9205-355457934584 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6ab46ef-f698-4d1c-9184-2d01b8c27db6 CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b633d2-0689-455a-9418-acf348d343a3 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c23a77f-0561-471f-8d7e-8ecf6f8c6f5d CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa781e6-6305-48c5-af0c-588b38c604d5 CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c149e194-2864-4429-ba1a-abd0d9b7df94 CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7546b7f-9c3a-4df0-9a93-294b621c95b2 CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec0ef29c-5112-4e43-9c9b-e7cdb3aa71b0 CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590929dd-cf08-4ef1-914e-a8e66e8b0a14 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b6062f2-e7cf-4362-ad4f-4250638fc169 CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ae11a2-c258-43ec-8420-996ff45ee848 CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 118cb6f0-cf3b-47dc-9187-b8f87e374be3 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b5ba5b-cab5-4af4-924c-747c1084465f CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ffbe680-3082-41f4-aded-68340a96a802 CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e026a1-7a4a-441a-a679-bd6fab43365c CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 487c8294-51aa-4596-bbee-bc694b3e370b CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef4e088-2683-45e6-b7a3-5915f810b3fc CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e03c81bf-bd32-4ade-b9cf-3658b984d4b2 CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3eb670-e9d1-4323-bdd4-7353fe2ab450 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d69388c-b4ee-4435-89bc-400b24746d21 CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae258d37-1122-41e1-9f52-c4530a3708ba CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bbfa0d-abd0-4ee7-85fa-04763e02073a CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab200468-8ff8-43a2-bacc-600ab2becb26 CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff9576c2-69c1-46ae-9864-ec2f036ec79d CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178e384b-60d8-42af-a647-668094556ada CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 821ae770-423f-4e7d-a4f0-1254f7d398f8 CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479a0ca5-9e78-4988-83bb-d0fc0e1d19c5 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10ff975a-f52a-4b43-9af0-476688cc0655 CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eec94fb-0da7-4fcf-8af8-5e3c935847fa CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba482936-f404-4c3a-b8fa-90661f1ba205 CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b85e145-63d2-46ba-96f8-23e1344873e7 CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fa42479-273b-4ebf-9ce5-75cf93358798 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c65009b-c0c0-4b48-b1b7-d3946c6504f3 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebf62f99-e2c7-4e68-914e-2ed4969a9e67 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a548d238-3323-4947-854f-39c2d5e1f129 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b427df8c-2252-44c2-934c-3fa1db0657fc CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd616f1-8456-4e2f-a8aa-0cbd350429fc CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbc2844f-a983-4756-b524-a9f2bec1e828 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4345e6d5-d829-430f-8074-9ff4b122f3ed CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75c22e9a-0fcd-48b6-bedd-05d396a962ba CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d757066e-8985-4d88-bf7c-3820fb0e5e79 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 815cfe3a-8e8e-483b-b40b-37c60e232a2a CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463301df-bf0c-426e-8fa2-3af6f3f0d972 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5461e094-4c8b-4676-bb83-7982e4612b74 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e86c898-354b-4a11-a254-5b77c70bdaf0 CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c78cea13-d9a6-4356-9a57-e8090d64a261 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108e3f5e-f370-4d24-81f5-a02f67b91f85 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99fbe18c-fc3a-494b-bc66-ada98a498ade CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13954f21-9180-4e1d-84e0-de13b3767818 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b96b49c4-44bc-4577-8c12-e2ec611cf6d0 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7586373-f772-4c48-8162-50b6aa3a589c CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def0e194-40fe-494c-8002-64b5d62740c8 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e3c84b-1d63-4eca-a09c-fc5adb3f858f CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4fef43e-6142-46fb-9202-ee7f5eb41e28 CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d73b0fbf-8c9d-4265-822e-4b2033d579fd CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4543c17d-fe4c-452a-8dc9-39992c9eff97 CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 908ee9da-d722-4574-861f-5c78aee26ead CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8590f49-6ae0-4119-adf0-211555ac7a1e CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96221523-abc6-4507-b49b-07e87ffc60b1 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e672353a-d6fb-46b6-820a-4aa759800360 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d7e461-3790-4b98-9d2c-a2ceba68d669 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b58cc26-cdf4-41c7-9a00-160e51b6be81 CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e35c57-3bf1-4ebf-9dce-d690f675cc1c CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e54fa87-cc95-44a9-8208-ccc311cc72c6 CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487695b7-c901-44bb-81e5-30d6da469802 CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f531597-277e-4da1-951a-85eabc4e9776 CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963c6bba-b401-4c78-aa14-bb877cb58d24 CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74a7bc2f-2b53-4713-b50d-31ec19d6545d CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a081c9c-22b2-4346-a254-78004d938576 CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6493ffe5-95ad-46e7-a9c3-e79afde37040 CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ccdfff-5229-421a-aa2f-356df1ebcc61 CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e015d4e-c8df-4be6-8b33-12c471bb29b5 CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c274e3e1-5baf-4c0f-8c08-95710e5ae563 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d9fb07-2950-4f86-8f25-c4618b5b7204 CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59696d33-110a-411f-99ca-a62d36e9432b CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a37d2e29-765e-4342-9a91-561e2b0ecdf9 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb2e326-2788-444e-98b9-77aaa2750720 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9ec731d-0f85-4f90-9a10-9d4d34e6d83e CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644b3331-5884-4938-a5f2-8f16b3d2865c CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49beaa50-230c-461d-a53d-b24acbf76bed CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b298d29d-f584-42b4-aa98-296c13cfec52 CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a0b6cb3-39c0-433a-8172-f7761422ebfc CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d081ae3-f7c7-429b-b4b7-517e6728c96c CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33c04d67-6ad0-42d2-a9e7-3482072a14c5 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68495c21-bf11-4bb5-a4b6-0cb818183a53 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ecf0043-1da2-412a-bae7-e9626d0063e1 CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f158c0-f471-4a4f-90c5-9b835f9cff8e CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9debc7e9-999d-42b6-85f4-e97bea13a553 CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef32cf2-0cc0-4c7f-b029-1f91a8ab5268 CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69bfb5ba-7eaf-43c2-b0f2-cc652c376092 CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f113bd1-085b-4e09-8f0a-79c47cadf70b CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28d5e8da-1893-476d-9143-865337bc0a9a CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb3e0eb-d115-44de-b487-45bf089abc9a CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7da97174-5463-41e0-bdb6-a85a17614394 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fb15c8-86e0-46cf-bd27-686994f37ac8 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be888775-3ae5-4722-9354-0009d352f2ec CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4c3845-c031-4ade-b899-1760caabfb25 CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 211d0f66-979a-46db-8522-efbea5087006 CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74eaf559-ca6c-46a0-b831-c0e576c766ce CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95abec73-71d2-4ca7-8593-af3364d8bc21 CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f3797c-8169-4fac-b073-a195dd46774f CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fcf5c30-ed8a-4b65-af6c-45f9548558d3 CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7801f2a2-9326-4427-bd82-a0066a18d757 CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b133f2bf-fb9a-4fd5-92e2-5584ac889f61 CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18cc372-0507-47e3-ab01-53c5299647ea CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a501eb9b-3674-437e-a9a6-fe8442f5d286 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfade9bf-8d80-4f8d-b814-21e25ffa2486 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bede398-c656-4c0f-87e3-21cf1e497a45 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63980189-4285-4d76-8d88-cfe6aab3b321 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 889672ff-20f4-48ca-b701-4b920b2c6bc5 CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15547224-f9b9-4b93-9277-263cd1feb0a0 CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90cadbbf-c818-4fcc-8eac-fc8ec966d03c CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a541f7a-398e-49ed-895c-ef78e4a4da32 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00d4957f-5010-417c-9157-ed8dab65fb58 CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7db8d0-ee3b-4146-b246-1014a8380605 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03434402-5bb7-4b49-82c1-b1794ef92033 CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb494f2-950f-484b-a9e8-74accea9cb17 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9eff4e2-1e00-4319-aacf-b4ff98dcb8bd CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96df4156-f81d-43a4-9b58-9c6f85ec56d7 CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 593f9ba6-8a6d-4ffb-8f4e-ca2d449cf2fd CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fac141a-6a14-4b2e-91d3-3a6a3e55054f CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46160398-7371-4e95-8b96-22c4df4fa4b4 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4525a55-d454-4918-bb31-f6cfc7e26fb9 CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 756263c8-f31f-4e9e-9982-f636175c92e0 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54728453-e347-4dfc-bb59-c5b5462e3bd9 CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ae76c39-5ead-424e-8a55-5e3c9dd3287b CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b3d606-4673-404e-962d-5a4c430a1c0e CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b751197-a30e-4add-97da-d035cd836343 CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad3d7932-03f8-4c11-9255-25c128fee03b CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62a0359d-9290-4697-ad51-cb7af11c4b18 CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fa9c50-0b8b-47a4-a336-893ece68c91e CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2acf9d0-dccc-45ff-8147-9c23d40d3472 CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1c984d-6fe5-48ea-871e-c27c92cfdc56 CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc61272a-c30d-429e-8d6c-852bdb02d024 CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cccdae71-be52-42b9-a9b6-1105ca7ec5ff CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 420f9f16-1b4f-43d6-9188-a6382f8e4a2a CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebe799e-69e4-4b55-a2af-f1f5e1db852e CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 983f7190-0f2b-44fb-9ea2-ae82720bd9bb CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f4eaa4-4e2a-431d-88e9-b3b9a59cec02 CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 280fe2f7-4660-4451-84dc-db33b4577357 CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c90ea5f-611b-463b-94a4-395fd4758b41 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffa0d817-5d7d-4f2c-8fab-0790cc221952 CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6284610c-5e5e-44ae-a0fe-30dedceb884a CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99368880-6475-4eba-ab11-76b0aa8407ef CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3579e493-457b-47fa-8379-42926e221f2a CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e93b466-ccd3-4eff-9808-463982e0315e CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eafd1a9-7ff4-4497-ad2d-9c0d1478d380 CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a5ba2ca-8c9c-46b2-94b6-cac5f8f168be CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7de6666-9fd5-4f90-84df-5d29fcce00d2 CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 914a4597-d220-43a2-98be-c453efda02b1 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa96eec8-204e-4ccc-910c-df6cd980816e CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d3a3a80-400e-46c1-8e6c-c799fce807e6 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca60c74f-5a34-43a2-84b6-2db39e7f132f CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e42e99db-a630-4df1-b230-16f2e9d09cf4 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7681ea8-edeb-47e4-866f-78f3788731cc CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10039a15-c6c6-41d7-828b-eee4a2013d10 CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf5a3cc-95d8-478e-ad52-ebf4765645e0 CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen babb8795-7795-4beb-8c51-d702d98d16f9 CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b7e355-33b7-4013-8eec-8dfdd9c13f27 CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eefe304e-6516-4f0b-9ad9-d7794b7c0d92 CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d641c2-b807-41da-b5db-a181ea6c9897 CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3dc0e08-9c66-467e-a2a7-65fd3ac381f8 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fae49fc-cb00-499e-8a8c-1cff15eef68c CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed1d85be-fba4-492e-8c26-939196cc7319 CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de321f2-bd73-4147-aba3-44352d8a9c72 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbfc4430-f9fb-441c-abb0-2df6cf14aac8 CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d41c929-0f5f-4c36-a404-2a314861f062 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9495644-ce9f-46e4-b162-1c84079accc5 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16f37b9-8631-4313-98b4-63cbf325e711 CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 068ce15a-ddc2-4e7c-8f95-d69e774511a9 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31d1836-826c-4c54-a95e-60805a5d8022 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e7464ef-76de-4576-987d-6a02dc467d38 CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd457ce-61d2-4f20-8324-bb9a6e0ab07e CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 775ad1f7-a958-4681-973d-d61b2c9a8d43 CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e87e531-1173-4001-bdba-6a36d5142c3f CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a480a412-125b-4f62-bf01-2fd3706a7e10 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52229e9b-ef1c-466d-9f16-99ec1460e79e CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61ec9e2c-7d81-4cbe-b62e-b551a02fb327 CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e133b850-8b56-4d70-80e0-ef6d6251ffb0 CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e663ef5-2d1c-4ff8-b481-5815096fe460 CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2100d65b-00be-4175-9065-a16ee0da122d CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87b09159-538a-477e-8b59-044c0531fa2b CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea263a0c-b7ae-4a10-bf2c-acf4c1ad168f CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d870015-006e-4ab7-9b68-9d20695d5c2f CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6faf4023-080b-4e7e-8115-8c7225f22e3b CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f35d0e93-8aa5-4432-9407-37762bcbd324 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e6e129-6633-4e92-a95a-178b55f0c421 CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e943d3f-4547-4b92-b09c-c95b0a74b685 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a14993d-bd85-4a2f-8077-3629fa5f0854 CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40850216-4822-4717-abdf-19a2d6188efd CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e1e02a-9123-4c86-9094-c176371257c8 CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 047610ae-31a6-4854-a754-9a260cf5b8a6 CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fbb347-c165-400d-b876-c9af023ce7c0 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22c855f9-8f7e-4d98-941d-75503a0a165e CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcdd339f-9e87-4ae5-b17d-a5d0c3cf16d7 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b4f0d09-d1ba-4e61-8ec7-4e7c575790c9 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e276a93-2bf9-43d1-a7f8-c1f8aa768026 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d308573-2237-4695-953c-0033e3cefdd5 CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c079dac-26d1-4872-adca-5ee6410d676c CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 339aedae-e56b-4eed-bf4b-b93448c04979 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b0b3bc-e3b6-4d56-9303-b59c493e2d71 CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d39b8c4-3b2a-4600-a2f4-ef01be650532 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec24b7c1-c370-4d2e-8a12-e5df27c06225 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88615aad-83a3-4d5e-b199-ab4c1623dd95 CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc19130-b72d-405d-933a-7c0dc96ec5ac CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c737b22-1ba1-46d1-afe6-4f5700c9c7cd CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b72756-57b7-4861-a547-40b887e7e9be CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9ded602-d029-467f-b239-df375b9989fa CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731b3ac3-1383-4f4b-8714-2176a1a91776 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 885134f6-ce6a-487a-af19-718e49332919 CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bed054-9758-453b-b646-538490f27311 CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c45638fe-6e0e-4a61-9d32-d7fecde1cbf5 CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41af1d27-6d7d-4d52-adde-719661eea073 CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de6302f-b52b-4515-9694-93e6d28a3233 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999e4aaa-39ff-4895-986c-dfea4fe60723 CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87106835-e1c6-41fb-b57d-3ca5addc41b4 CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807ba29b-d40d-4d35-97ee-1c6efa078269 CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 382c73b8-aa22-465b-9a58-be5fcc1b601c CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7947902d-b864-4ffa-a720-747a947c8042 CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5ab5a1e-8419-4027-9f2f-fd7a0b9bdd01 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2b64c0-add1-48a8-b4e1-6a337c3599a4 CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5fdbbd7-6923-47bb-a7a9-620360f94435 CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6753ebf-42fa-49cb-9b1c-edc50db4638b CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 176ffc1a-6e0e-4210-8f6e-873295e1954c CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9697b8be-b7b5-4d89-8dcc-ec3875c6005d CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de814a1f-821d-4f33-8850-35265011be4c CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1766108-4082-474f-b70a-acf91a067859 CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b04f4ea8-8d44-47be-a306-545de0ffaaca CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5ffd1f-abc9-480e-b75b-4228fa7a8e9a CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce1795f6-0f72-47e4-ac10-075cd43be161 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2451ae6-e4ce-4c13-97d8-03484d075e86 CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f66738e0-b2c3-44e3-be0c-f217adfc1b31 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c1b867-fa50-4f94-898f-4fe5177b49ad CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cebaab5f-b463-457a-a9c6-ea2cf9088a02 CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d8373b-03e2-462e-bd14-ea056ce1c6ea CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70cb979f-3a24-423e-bfa8-55134c59a4d8 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3d3150-26fc-41c1-b99b-88ea12b15a73 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7249672e-1d35-4fa1-bb3f-cc53e5ea2990 CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4817cbf9-911c-4535-820a-4539a1d868cd CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4dada35-88b6-4f74-b215-fb942bdc7657 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f75ec98-35c9-425b-a814-e50f98ff9af4 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 865323ad-a6f4-452c-96a8-f81b60ac1a66 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0c95dd-1cab-418e-9a32-9b5099b0908d CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a88cf6d-02da-4e42-8dfb-a0de6da487d5 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540e89cf-4522-448b-be6e-4f0984cd1c7e CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e978cd2f-0667-4a71-8bbf-09944d384e42 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bcf289-af03-4775-b00c-68e5aced0b07 CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b8a320c-e6e0-4f48-bfc4-85d1444ab4bd CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd45bf8-8a48-4655-85fc-f4b6e97c4fdd CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b482cb00-54a6-47c3-9dc9-ad2a0dfca480 CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a201b37-04b0-4327-aa3b-6da00822645e CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2269c58-6e49-47dc-9bdb-dcad6f8376a1 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18219b60-f94c-4743-a3de-b2242fd68382 CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0cfa6e1-e09e-4fbd-b55c-7e4cd42b81cb CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387fc09b-34fd-400b-a845-5a043dc5ce25 CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df714966-7bbb-40c8-a8fc-1245fcab0187 CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8f7b1a-c12b-4222-b09a-ee571e3a347d CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f5a6996-ecda-4ea7-8a78-8eb39cab93f3 CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b093bcf3-2252-4237-99ac-5210066b26ef CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c4839ea-1210-4d93-ab14-231ccf64beee CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d79dd2-4390-413b-8570-6d484797f84b CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 208f7556-8eb2-48d9-bbe0-a6ba2abf92f9 CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a91251-a494-4437-b831-0e6f3a47f808 CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6360ad8b-da2a-43ff-9c8b-2c49fc19336a CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fdfcc8d-fb79-44dd-8c73-016a84baa649 CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 081490f7-278d-4476-b326-15f8b9729cd6 CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c95cbc-8c51-490e-bf87-9107af93f0dc CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 298cf2c0-c6fd-4ee0-b2ac-a3dfc280a3db CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8def303d-ff35-4ef1-b20e-231e28fb8112 CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f4e268c-a5c3-4896-903e-af3311fa88c8 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7a597a-1822-408f-ad4b-83a4b80c834b CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20b92a59-18c8-4aac-91bf-3e9ac517538b CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5ac2f6-2278-4e84-9d99-f1a434d396bf CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c0779ff-5067-48c7-a5ae-ad06a041096e CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c506d3e9-d2df-42af-ad84-6b2f6f58173e CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94658381-734a-4b02-beb7-2aea3329c83c CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4baf6f-b5f4-4071-8a01-8f5eab2d1084 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0d9491c-d7bb-46b6-8452-885a44bd6e8c CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722a4283-781e-4490-9833-f0e7be9dfb6e CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54a7d151-e8e1-4960-8b72-53755cc601f0 CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa2d68e-ef87-4f90-a7d1-75015f82f669 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c40e4d3-e280-44ae-815f-515705df5408 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1a78db-f443-4a38-a180-5ffcfb77592d CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2dc32b1-7dd3-4e1c-805e-4a8c3e05a908 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24f567a-85c4-44e9-b871-03cfa29e7990 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fda1173-7ef1-4c4a-a047-401c927bb27f CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775639f9-83b5-43ca-a9d1-28c393a81aa2 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20df1ec9-55d0-4683-84de-d9042cedbcdb CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85f9f40-aa45-44d0-858e-1e7b71d8ace7 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22c2c604-52b7-441e-b326-91bced6d4411 CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6045f11-44b7-4c0b-8e97-6de4cb486146 CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 528de5f3-0a73-43a6-8f9f-9e84451874cf CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5bf08fe-1387-46da-a5de-85788792f444 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74a8d421-7a20-4058-ad92-124a3b66af64 CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39551dc9-d348-4519-9d95-6d8add7f80cb CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54b0974f-329e-44ff-bcad-995698a0eb94 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec93e35-d23b-47ce-b5f7-19af73e7aa99 CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afc1513d-e0ac-4610-98bf-5cfbf90b0195 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e540806e-8207-4c21-b659-e151ea7188f3 CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c6cb8d1-b4f1-445c-97e5-a32ad1e64b5a CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f79d84-b366-4fd3-9d48-39799be2ed46 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b24f6f9e-3f6e-487b-8422-e9e871212b8b CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abef7479-15b3-4b7a-8293-4f5c1e65e800 CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc213736-5ea6-4905-9578-7ba8ac17d77a CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a8b21f-0e45-4d42-a28e-70d7690dc9df CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9bc4142-5248-4527-8457-a07dca6b522e CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27185c46-8f18-4f81-a56b-6d82bf19a6fb CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a298aa3-f939-40a4-856a-dee08811887e CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0a1a96-1704-4019-8e19-c8e6ed71bca6 CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac7771d-1f8a-4288-b32b-6a496d1be8f9 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ec4281-2d87-458a-a47c-8be169edfe94 CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aed6cf75-910b-4c1e-be33-3a5faf31ca92 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600e02cd-fade-4b45-b1ef-df91eb46836e CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63a100dd-eb68-43ce-ad47-e74225580748 CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7fb23de-90d2-409e-b192-84efcbf860d9 CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fef2395-cf55-4133-a036-6919a6051d31 CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8f7fd2-adbb-4b20-b967-8254fa19e614 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe9751c1-2fa1-4db9-9085-3b894ac1ba76 CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49f3643-0c58-44b8-858b-9c68acc9e2aa CLINVAR:1141521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a03ff244-7275-4f5e-85d6-ce38a33787a8 CLINVAR:1141521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b294ce03-299d-4eec-85b8-00581d30347e CLINVAR:1082500 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5736a6-5d28-4468-b1a5-68f7a4a3868a CLINVAR:1082500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fa11d2-7872-48e0-8f92-fe4bb78b935a CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a295a3d3-2678-444b-819c-824f67ce5bf7 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37e0bfc5-38a8-4dba-89bb-f54ea50f865d CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f545211-ac33-4570-a667-a56bc8e77410 CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a5f64d9-641e-4d4b-979d-ecc7b05ed5ca CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9216e44-8c1f-4e61-b5af-4c0733994058 CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823235fb-bd8c-4a69-b20d-67cdb6e6e396 CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e87c7488-3bf0-4528-b452-a24a162e79cd CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b596a01-dd69-4e12-8149-226c305fb1f5 CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a13f8cf-03e2-4af8-af5e-04df57e8ea8b CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e917626-eff6-4f2a-8f8c-1bd450ff3702 CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd93a7ba-6adc-4256-b73f-b4e00656746c CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 524bc1e9-4fd5-452e-b5f1-4dd4845ef5be CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79b1cb20-7aa6-4871-9c99-d38fdf8023f1 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7f7ad7-58e0-4e32-a046-08f8079cc9fb CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d62d58c-b126-41a1-9e64-efc0a4e8b928 CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23eaef4d-eb64-4b36-b1d0-743c3129144b CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19740dac-1c1e-4353-8845-2923e335747f CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7239b1e3-ebd0-4684-a0d3-dcdc020f368d CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7e1104b-8893-4788-88fb-7a168137a481 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b7a53f-6b25-4069-922d-640341a97cde CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e761465e-d75f-4666-9cf7-569e2d6e22cd CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4129e912-575f-4e1f-8337-cefeb811f654 CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19b90625-e0fb-4287-8530-2c7b1f4697c6 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409e1de9-67dd-424b-be73-e82a8e223d12 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec5b4c9d-c72c-4114-8854-7bc51fd20b48 CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02781909-2cb5-4f86-be76-70c0ce965281 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b338e1cf-6855-4add-8b90-1d1bbbd876da CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f25ace2-0802-4810-b6f5-ed3366adf852 CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e7a2c9a-fa3f-482f-854b-720265ed3964 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9234f38-ccd3-431f-8fb5-1644d0e1016e CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9bc2ed5-df39-460c-9530-1f1e8bb9aa49 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ba15e1-55f4-465b-83b0-ba34b6fe77db CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21d69ec8-34dd-4203-8960-c597f5d1ef09 CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcf8179-d766-4749-9cc9-9766f6181474 CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d90e63ce-669e-4f62-b81a-82bcca448b39 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dac6944-002d-4fc6-ac6a-3be7cda64d4d CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be502b94-1716-4643-a693-17167fc3e1ce CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ac82c9-a75b-43b9-b2ba-99d5387d8bfd CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c150f6d2-8884-47fd-a8f0-9806f419e922 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af10dfed-84ad-4e4a-a65e-dd7f80b02a72 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88a93a44-9fa1-4d13-b08f-7cf4cf44fed7 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd95b50d-798d-40af-9b45-4a9c960c05f7 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7203af4a-5284-44ac-bbe9-20164bddcf4a CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f900bfe-ad81-4914-84e9-3fc7cea4c5ae CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f26890e-a5a7-4e3c-84e2-44ce6e959935 CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c356ec5-12fd-44f9-ac23-fbdb2c3f2f55 CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0ac0104-2150-4f74-a14b-56f7b9f984d8 CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64706885-1d61-473c-aa49-773da7dd5d7e CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e6cecca-b30f-406e-944d-10446fc48f02 CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9627ac-e428-4bab-a19f-1469a38d2d99 CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb0d9cee-2d68-4465-9d41-d6ed2e1edb4b CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014ef58b-8ebe-4bb0-a60a-d60c7b160b64 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bf43af2-fc75-4f1c-b560-04122e0598c4 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a0b22a-1971-4f26-845a-82013f5e7c60 CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11370769-c260-40b6-b92d-80b3e8321b34 CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf3ad47-0937-4437-91a7-44cf9f928e76 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff1707f1-77e8-41cf-9e57-7f17a72f7edb CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d0b362-c7ce-4d71-90d6-870d83e7e7e2 CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b1771d0-3742-4bd0-b9d7-d7e2077858a0 CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cc0fbf-efe2-4078-ac88-ec8064b388be CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ae83c1-7216-4f7d-bc0b-248ceb31052d CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4acc3f67-9afe-46a1-b70c-6621229ad0c0 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8768a847-cbe2-4a19-8978-c9957dfdf59f CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b98a88-d5c5-49ad-b8b5-c3d2cdac417e CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30bf4525-d698-4620-b3d3-24bb8f03234c CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67403ab-16a9-41b1-8c29-b53abfb02dbd CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 284bebb9-7f84-4860-9d80-3490820c3179 CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5679dba6-4cbe-4b76-9a86-7ca2e9756e21 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a3d1c5d-3ac7-4927-9d33-bfb0c895023b CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44fcc0d5-5e64-4773-a967-017bffe7725e CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 737ee451-e728-41eb-907b-cf08d4b258ba CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166c5cd6-bbfe-4e3b-8d0f-08def6079001 CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3a6a0be-01c3-46e0-a1e9-ee15cd930f07 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720407e8-b1d1-4be9-b6a9-9465dbd13715 CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58379df6-0f77-4c3e-bfe0-82c93e6e4cc9 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bcccf5-e798-4295-9512-62be83f86605 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a25990d-c2e1-4438-b8a7-2af41fec62e9 CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e85d5f-776f-4002-afaa-75778e91cd57 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eeac528e-0302-4945-ada0-13b8a7be238b CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e72a1560-8bd5-4ea6-bd03-a86594eb2191 CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da25e6af-4896-407d-856b-525fcba3ad9a CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17da350a-fd5a-42ea-861e-e82e3bf0c4e6 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebad47de-0e3a-46d1-a967-a96367789a69 CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba53303a-6363-4dd7-b40e-90f9fdde2d08 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a2fc61a-e6bd-4aea-869b-0508c38c79ce CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d66a98e-992e-41f3-a1d1-fd364919b6d4 CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67ed1917-b0a7-4ab2-85c6-7e5d26d9be03 CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339a29c9-aadd-401c-a23b-c74ce7943d67 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf4f4494-0b3b-4be3-a511-4e2d86d5e269 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94723958-2520-44e7-96da-e147e8fb234c CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29defaab-c95e-4ccc-806c-855ad7d74c9d CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caecd250-145e-4d4d-bd91-eaebf0884982 CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf24714a-e77c-4104-903a-32168b35a1c8 CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d25029-fd2a-4cda-93d9-44153150945a CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3e8b6a9-7b51-4efd-bf5e-1e74bef451d8 CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d35ad5-475e-45e8-9af1-8ca7a862e5e6 CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 652200f9-8de9-4f39-a2de-cb80103a1be2 CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b1eb15-4ca6-4d8e-8f79-c905dd5f8641 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db807223-e290-4dc6-9af4-5eb0d6bff9c4 CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e8a4a9-df33-4732-987b-3968456bfc33 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e198b57-37f6-40c1-8af9-dfca5b5570d7 CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47278f73-3725-4db4-8ff1-9b1eaad94f07 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 185d1858-761f-48c7-ae7c-3ded9512e5f7 CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f89105-7172-4744-8d5a-8921605a0420 CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a06393ba-4f99-4993-9585-f6f9575cec95 CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f62153-a03b-4457-b360-efc0cb952aea CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7f9137d-1620-47a9-89fe-748cb375a251 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e361238b-d051-4f10-a12b-a6c4066cb32c CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152f9c5e-4af2-4bc9-9c0e-bc53730a671f CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba01fb7-7647-4f34-bbcb-f452780fc56d CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5c80633-480b-41fa-8773-471e46a6578c CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9adc6b-4c45-44ce-a1c6-339f772d9fa7 CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9743ded7-db2a-49c5-9c5b-7b1620c0bdeb CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d444e64a-bb48-4089-93ec-c6902d4078cb CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9d47020-3560-4387-a6a5-5e07e097c631 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc7c026-24c8-4685-9545-014978156d2b CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82069a39-f58b-4e73-b3d4-8a3fe3aecc2b CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a028b328-63c4-41f5-b3f9-2c5ecc215e1f CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ebd9de2-179b-460e-aa81-223fa1afa0ee CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec7c4d9-fe80-46bc-8b35-2021194607ac CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5e3d4a-9eb8-47dd-a142-ad618a492682 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afea63f4-f368-415c-9ea4-701d3c7f0939 CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7bcfebf-0873-41c6-b7fb-51b88eb23489 CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b362a8ab-6644-48ff-bbce-d84211ff2676 CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1aa93ea-0445-44bb-be5b-22c54493195b CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea354927-9e35-45e8-87b8-eb2750216c85 CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c63e7fd9-db82-49b9-819b-9d91675cb0c0 CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb734fba-6445-44a9-828e-267517820f2e CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57156d03-012c-471e-892a-be3c1a8bab6f CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f362bcb-8982-4a43-ad3b-6cae005b8999 CLINVAR:1338528 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b69d6bb4-c74a-4e27-ab30-2e29092bbec5 CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132512d9-c4ae-4fb2-93a2-6d065f3f9e7d CLINVAR:3336850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 305ea163-52a2-4b92-95ed-2a6d460dea89 CLINVAR:3336850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3c21bd-c2f9-4d15-a100-6cb8002b42ac CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0f79010-efed-4177-9703-893268e7506c CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c7cb7f-8631-49b6-a15d-56b76b9f2adb CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa6c07f2-a0e4-4844-ace5-a3038998496c CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50704549-3f45-46a8-8f76-027561bfa744 CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ff55be3-f69e-41d4-9071-3270ae9282ae CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74e4b3c-2589-4bde-94af-261a8b8da38b CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a6e0b53-9211-420b-b7e7-a3e7aa0630a7 CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14210b0f-9dc1-4aaf-99e0-4918d9c4dde4 CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de20c8f4-328d-4e13-b51c-700708101377 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c93dd06-42a9-4867-ba02-c959ae1a26c8 CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c420163-975c-4c93-ba22-cb07da09a7e3 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe93c2f6-6f48-4a2b-afbe-5c61ed358da4 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c1d1d75-fd18-41f0-9be2-156b9b863d26 CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ad2432-0b7d-4c3c-9517-c9141adcba2a CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d8a8c56-21dd-49b4-96ea-cf147cbd465b CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbc8008-a237-446a-a06f-616962e6193f CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d4d7588-3cd0-44b0-b6fd-4b889676fb4a CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21513d0-60c7-4fb2-8e80-e3017922402c CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28efcd43-922b-4c03-825d-c5c172ca2dd7 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ff82f6-39b9-4fbc-8046-ae180bfe02c6 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb77d8e1-3278-4902-93dc-10e5aab5ad0c CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c190b9e3-6394-4525-b623-09dede8d18c4 CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2b4d938-2845-419e-bf2f-5c32305bf487 CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73038cc5-d4e4-4fba-9f86-a8ea3b8b2b3e CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aadec32-0ed6-4525-8e67-a946c068409e CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fb3651-7acc-4160-aeff-2550add6706e CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 540fdf48-57c5-461e-9b7c-00fcf08ec76b CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c44148-fa0f-4444-89f1-1c20130faa6a CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11d4a19c-91d8-44b0-b145-a7c6c51dcc73 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a473f99-1c78-45cf-845f-44edb9f228f8 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe107f1-abc8-499d-842f-39c28a5ae999 CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f155e11-0dc9-4c26-8b5d-e2f83327fc8a CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 478a85fd-5bf9-48ea-b5a8-d7c023ca6c86 CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e811c528-24dc-49d1-8aa3-c4ff516131f7 CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1573e6b2-1f9b-4b03-b293-59d03591dfd9 CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ddfe0a-f351-429e-a0eb-61e0f6e40d53 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6c9d6d-9cbe-4ddd-a2f3-f5a566879b4a CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d0edba-16fc-4827-9ac3-7e15a8d98689 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9120973-e464-4340-a418-50f84aae912b CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad67f54-212f-4f2b-a0a5-033b29a6ea36 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a724f402-7257-4216-8f61-945292680c20 CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26f36c5-15d8-4e2a-906f-d70b70ec3d63 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 409e8e1f-5379-446b-b1d2-1f006e4e2fa2 CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e94f349-c3ee-409c-8bd1-2df09bf970e4 CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15689128-8edf-42dc-af57-91b000eac1b3 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68742d73-fae8-4c5c-bf60-17f428b2c892 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4566c79-6328-46f7-91a2-fe6977be8b0d CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d575aa-b354-44f3-a3b8-d6f68474b08b CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e337c559-40cd-4d7f-9639-2272b565d202 CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7ae41f-f725-494e-b87b-ca267c32c764 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28dcaa37-53bf-4470-aa58-5529f0e8a27a CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e1cdd5-aea9-4c0d-ad03-905deb8e5b04 CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21dc3e07-f0b4-4fdd-bd03-2f218d73d429 CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea605d1b-e13d-4a3a-a02c-1f7f3c96b383 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27df56ab-2f7a-4dae-bd09-2e2607b3e263 CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5ab5b7-c962-46ea-9eaf-26bd7d18cb98 CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ccb1d27-8595-4e9c-9e03-4a910d7b5e57 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff1e7ff-1a38-48a3-9848-bb5797231522 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38fbd939-cb76-4a98-900d-4115f00926e9 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2978c43a-ff71-4b35-8c77-572c330214e0 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77ddf4bc-1087-420e-94f5-87d4cfd168b2 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ea081f-23fb-40cd-9724-30ad0ce640a6 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0027257a-2060-4dc6-927d-b909b065aca0 CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda62125-3d13-47d0-848a-31c6023bf90e CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51436b42-eddb-4d9d-adbb-0109fbf3413a CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1baced81-9cae-400e-a981-3ca13c079e1e CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2381d290-76d0-42f9-b15c-b23fa39dda77 CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4944522e-be76-44d5-8918-4b7012ea1f68 CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb2fd8af-92c7-4ce0-8e15-d8a67c987957 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8fa834-0665-49ea-b576-b0fa82a8398b CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f05391d3-9ec5-42fc-8cf2-75d73e0fc62c CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386a6fb9-6c2a-4d36-bcc7-e4e7ecb56fec CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a91c143-7b95-4506-9c83-a74be3dd9a9b CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bf203d-afcb-4737-a9c3-d37118c4aa33 CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0272eb4c-e89c-4865-bdbe-7f3212c832a0 CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7a4abd-e15b-4fc8-bcaf-af17f2c992a8 CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b43f962-db78-423a-94bf-3851c9cfe446 CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3291e51-f7a5-4c7b-a824-600d320b3cd3 CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e88fb443-9fca-4345-8e9d-e32773232f65 CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becad6e3-bd2e-42a9-aa20-138feed6d8a5 CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 220ae256-2d9f-4024-bdbb-dae31fe60a1e CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64beb7a-f173-4fbb-8832-4f833347087d CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87e6504c-3d02-4d91-b048-98563021fdd1 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ffecc7-37dd-4891-8ee7-5657266ab082 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e66bea86-fa42-4d46-9385-f00742e6a069 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8d8c5d-ffd1-4423-8f01-0b35835d7553 CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8a5370b-87d8-4921-84ce-af4c0b56449b CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514dfb36-6172-4f09-b399-fafeecdb6c44 CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 178c4911-8550-41eb-89d8-c2f7f9e10e0c CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280ce2cb-b64b-445d-90da-d465ef6a35c6 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da34a33e-0180-425a-9b75-0bc106aab573 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b073521-dc82-45a6-bd9e-e554d7884402 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a544a4b-af2d-4fc9-918f-a9825eb3c4b4 CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffcadd57-52d0-4731-b82f-396f0c6dd7b1 CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23bb9f56-b4aa-44e6-a572-a07c6208053a CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c0cf84-8a48-4d22-9188-d46ef0ac7186 CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82127037-fd20-407c-ae72-2dd6672169fc CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8913ec4-cdb0-44cd-afcf-04689f02d1ab CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7befc1df-7af1-458c-83fc-62a076e116b0 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9807430-a760-4ed4-9dd3-ca5d52d69155 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bff756b7-708d-4e4f-b59f-e2c8ba1cc244 CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87058fb-77a6-4677-966c-3620dc23c669 CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbbb12f0-e7e5-44ff-8278-c72388d84a40 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295764a9-1e4e-4183-87c4-e9986eb6a52c CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53b068b0-b385-4884-b36b-008d68a03e50 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dada0264-3977-4db3-bee3-565db62553d2 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adcdf740-202f-47cb-b42d-bef34e1dc6ba CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e3e4f2-d967-4c23-a6a3-ef6a6ccac767 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcb4e607-6758-4310-8084-e5dbf9ee8ed9 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d11feef-702f-4276-84d5-3a923d38dff1 CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a56644da-6fa8-4bf5-9fff-9a0d55c09161 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3940408f-305a-4e39-a6f4-c4ac6ce6eaad CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cede2ac9-2572-4483-b426-8b0959f5705e CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbbc450-ed3b-4ed4-aba6-2e6a4cdff298 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5f09106-e7b9-4813-b216-aaf99558ba8a CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e582b8c-aa2c-4552-ab48-b25248f963d9 CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06453599-b917-41aa-941b-7798046bb3e4 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac85833f-f5bc-4774-b099-16a0277529e4 CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d73973a-5d6a-405e-9e08-b0047c05cbf8 CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a6848f-a0a9-4ff5-a022-f72cf869e271 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62921bcc-cc6a-4bde-9d57-a5682594452e CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ae77db-6e60-4db9-93f2-8215d389d9ba CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3520e86-951b-45ff-b063-e9f880e2c294 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127bc0b7-02b4-43c4-be29-f3ce926826d8 CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb9d398f-1385-41af-9a77-0e7ab122624c CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d2e8ff-6e07-4918-89b2-f6fadf23e01a CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31906468-5e69-4c1a-85c4-7bedbcd669c3 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d396fc4-daa6-4d7b-b895-42b50ffef1a4 CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7176f290-77ba-45b2-82af-20d9c3d89eff CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a095cdb6-cda3-4834-bfce-b57942fa1210 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecd13db0-1767-4b71-ad73-38ac06b3c5a8 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf36b282-fa1b-4ed7-8e6f-cddf955d6247 CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1a8768-4dcb-496d-9e1b-fd21affee81e CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052c8570-7138-4173-abc7-c16f58c8f7b6 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb66fa01-192b-4498-acad-95cac3fc592d CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4fc163-ee77-43f1-87e9-3bf6dc555fb5 CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e85fb93-517c-498c-b0b1-279acf572e22 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa16ddb8-ff8b-4527-a578-ae7bd39d7d18 CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd521eae-2458-4277-a588-1f625ab00bda CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fe3203-12c3-449f-acad-3faf44862531 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9281d0ec-b28f-46b0-9aa2-637fb18f5013 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6246736-16fb-40b9-b0b9-c23ee9320980 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daefa110-dacd-4ee3-ba54-97e73db744b2 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f5a1285-53b7-466e-8750-f53e9923b711 CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d501a8cf-05b8-4683-befb-ae79b07f98f9 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41fda503-be96-481f-86a1-ac5c10e15080 CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cefb8bb1-f0c7-4ee1-8672-95aeac5cc36a CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f05c075-904e-43fa-a267-47719d09bfc8 CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b91d3e56-776a-4fec-b062-bbe53cfadb73 CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7cd52c-e23c-4300-a5c2-e6820f132c3e CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebfeb13e-8d00-4d10-87cf-fe5ff79d62e7 CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d6846ad-7c9c-4a56-b395-a7f881e6b758 CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8b5909a-9b47-4ee3-988e-2fa73f3b2e88 CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1e5e98-4d53-41ab-bcaa-1513ad37a31b CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7affa50c-3cbb-4efd-bc58-c62a7f727da6 CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380d7cac-33f9-484d-93dc-bba558a6f64f CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3196789-d98c-43e8-9f56-10fc83499d1c CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092a6f23-22af-455e-a84e-c4be1a9c7775 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5133743-5f0a-4e3a-9555-8f02272f1209 CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399b9aaa-483b-41e6-b128-bf4e0641272e CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4b3792d-6e74-451b-b694-dbc50a8801ed CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc313131-e74b-44ab-a655-65808863fdfb CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9efa6bcc-e27e-43aa-aabc-be5f01b6ef89 CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4faaf3d-4e81-4c67-addb-0416d68b69db CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3e0846b-66ad-4054-b1ef-c966f4ae07af CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8bad84-c0e1-4b76-8849-a09657159493 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b476f8ae-81ca-4951-819a-34ac855dae64 CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff0ab40-fb39-4093-99f3-9cea9793fdb5 CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18053ee7-67e7-4bbf-a8b1-44c0b1d314e5 CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1539dc81-ac67-4dbc-820f-e8c8fb6f5234 CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95de1a5f-73d1-452b-a14c-8293517503b8 CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8bba3de-9c73-45cf-b108-6bd3adfaa260 CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6241a37f-b4d3-412f-b5f8-7c94a8ceafd5 CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85e5716-c5c1-4930-80e6-fbb152d77f2d CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a458c8-e762-46e8-8f2b-8245dda85919 CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0263d3bd-6a19-4b1e-850a-a6d8742c576a CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46087336-6df1-4307-b4b5-b11906937b32 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b48a015-2eee-49b3-93c3-3df1ea650511 CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd91013d-28a7-4210-9a41-0982446d45b0 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f67b54-765c-4e1f-9c9a-cb248842cf84 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba0e433f-25c3-41bd-8077-57696824166d CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae3e6fc-630e-4dbc-8a96-b65c647ccf0b CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66f71ce4-3e67-4b87-a6a0-de9e1acce796 CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5297d477-b6c0-4429-9255-d94b9cc4e315 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c789cf3-050b-45ba-843c-be02a55ec1ec CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8e4b97-88ee-424b-9496-8797a9b98f8d CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2c4756c-b589-4225-bf23-400aecbdaebb CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363a4b9d-a528-43ea-ad02-18033e2bda25 CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 453cfb7d-2493-4c72-8725-2e2e18b847c6 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd8d8ce-9f18-42fc-b7b7-997e1b57f4de CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d74ac6ee-6934-4a16-86cb-54510c9611ab CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e6d35c-5c38-4b44-b0af-a909ddd38016 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab543bbc-440d-443c-8314-aee0783efac3 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec247463-2ac7-4a11-9b63-ea3fae1c724f CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ec778bf-ab7c-4aa4-9a20-bf6225532054 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ad7e77-ee92-4e07-96e7-f21ba7ab458a CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7127a78-26b0-45b9-b4fd-d0ceb79e5165 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfc3cf5-f3ca-4a58-9075-3252df903302 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ce6b742-0946-44a3-a59e-665c9793036d CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caedf673-8540-416a-9301-1f5ddc12b4b4 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a22c2dae-d269-4fdd-b61f-56ca64e2f61c CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6308f9e-d4b7-4992-8e04-f46072b75955 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb543206-87ea-44a9-9090-f02051e7cb36 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20966e68-6261-4c21-abce-2ed0acd16b53 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43d75623-34f5-4c53-8aa3-ac4c50c6613f CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb14a6c-2734-4dd2-bd14-be70d93fd3a4 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9146dfa-5350-4abf-8973-48bd260cd355 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41bee1b-fe4d-4f71-875d-cab0fc285d26 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38a938ec-cc57-4b7a-b5e8-5763779c0a7d CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1496741-416d-4835-881b-8a7d92bb0934 CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8a2c1d4-553d-4463-8c39-bb4713c22b26 CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8599fba-385f-42f9-9a0f-01aa7fbb0379 CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 061da8b2-2049-4291-b840-fd7eaa63a1f9 CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9e701b-bd73-42ca-b9cd-b72afbdaf0cb CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d59b1133-963c-4925-bc62-e61d3e94a02b CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff8fc3a-d910-473e-82d5-1df0e3127380 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 445a6d55-b700-4220-9942-0be3714badb0 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a205f501-9abb-47f9-85ce-fa4b8a8042eb CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c121148c-e6bc-4f18-a022-cbb5ab9ec43a CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a6e290-c825-463f-8e4f-af48f0581ca6 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e85b6c6-beb3-48cb-99ee-623b80b991c8 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e9f614-e5a4-45b1-ac0f-188769725b6b CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd941eae-8ff0-4e8b-85f7-2b9126605774 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71acfd66-537e-4b88-9012-0d783ca99b1b CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7c66e4b-9742-4b75-b64e-53797daf8874 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2093a374-aada-4cc1-a854-d24638077cf8 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5ba6f0b-c35b-4312-915d-92df8902b616 CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3204a458-c141-4772-be12-07f41509f472 CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ae1b224-5627-42d7-a57b-d74437ca9977 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8f86e3-fc3c-4865-aa32-25f48f3f18da CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8cb05b3-e142-40b6-8682-970f5ac38309 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffb02ee-8703-4fa9-803d-ea4e28f32951 CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e752bd03-3825-41e9-8d39-5a6bea17ca9b CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35fe8a3b-538d-4098-9c3e-6f4862b10e46 CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0360e9fe-dedc-437e-ba20-81b4338daa7d CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0974ec68-62f8-4e4d-bf23-340f192d0564 CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f9b522b-fa1e-48ca-afc6-e0ebf789e83b CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d8b193-ea75-4441-8d27-d8f83b476833 CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da2ee9fd-cb08-4510-bb27-b063923cd034 CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c603ad2-ff4d-4a17-839b-d83e430ba6c6 CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e317e9e8-19c2-4704-ba6b-2d39767117c5 CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a87e78-fc4d-4a6e-b93b-554b8adbc208 CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5271dde-dc63-4066-840b-5676f53026a9 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1d0153-319d-43d2-914c-f7121d65df93 CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af669795-7e95-4510-89b7-eaf9a81053a2 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26945aa7-ad61-431e-a9f3-c45c5d6054ff CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9169751-0b7d-4b14-a479-b95bbd1db774 CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1efc55-bc68-4996-8532-b02121a3c49b CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af9ac94b-6707-4eea-8b93-ff9a9c6f379b CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89af6ebc-eed7-46e5-b681-b0534ca288ed CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b68812d-e7a3-44bf-88da-b1f1b23a1f56 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d527139-4ff5-4bf4-a2ce-d5fdb8d3100d CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bde2ad7b-913e-4876-a010-d55e904be470 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9993a647-a9cf-46e7-8303-aa959144108d CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4732d735-d5ca-455f-a4de-b1a109c00bee CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc3b28e-3897-45e3-8803-ab90a2370aa3 CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af0f382-3b4f-470d-9ed1-439d0ede5fad CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfabcceb-f06c-48cf-99a5-f9823bfed8cd CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1879e402-e093-4da1-8c7c-a78eed170e58 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f7fff2-1bcc-482d-bb66-24804991b6e3 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5f8c652-6603-428b-971e-c8ee7712fc6c CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc6b8a3-4b50-43df-9e4c-f49f776d97ec CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc789005-a0a5-42f6-ae2d-b683e71fdd33 CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83521bf-9587-40db-9c0f-72dafd53feab CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df8779a3-c5e2-4f9a-8bd6-5748176f28c3 CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e01f16b-8c97-4593-a8d3-2b816ff54f6a CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d874121-608f-4f3c-bf70-592d27954db2 CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90659bda-2d10-47f7-8d54-28ef6ec9fa11 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13bccbb3-8449-4bf3-bc7d-1dbaf40e7030 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ca2020-6482-481f-a894-27cea8551f5e CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e647035-2e71-486c-8d26-66f9b80c7a52 CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdaeeec8-6246-4754-8265-bcd73280b37a CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 408bb0db-e519-4892-ab08-9b263b75abf7 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7267d118-a2f8-4ea0-839b-e1cebead8d00 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5137f69-a7d4-4591-a9ef-41dc23b059d3 CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c2626c-629d-44b3-a17a-9ddcb8ed96b7 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da0cf84b-338f-49c0-bc81-f0b99ec076c1 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352b1f1a-fabd-474b-a7e9-96d924d7e83b CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7dd5731-275b-4a4f-baad-5ed4a401cf2e CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 931cb3ec-5fab-415f-ad27-74ab340d2299 CLINVAR:1948845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72e797a9-9492-4a54-8949-347dcaa3e38d CLINVAR:1948845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcf5220-36b4-4d95-bfdb-5a3f3515ff33 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3212c224-4b94-4e6b-8823-b73fd261810e CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6278e2e2-058a-4501-bb6b-3aa7f447aaf4 CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8f5481b-13b6-47d1-acbd-ff4403a083e8 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ece6390-f967-4705-bd13-1be4bed19e70 CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51911d53-fdc6-4312-8f7b-779b2fe1051e CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c65cc8-1e56-47e6-b7fb-37b6e1850c28 CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88e92ca7-9e91-4474-a106-8b42a60792d7 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5114529-d471-4236-8da9-d63cca2f32c9 CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e22aec88-5bcf-4b66-b380-4b7b662a2707 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd82aa64-3d08-4895-bde7-6b65491e9af5 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b557356-c810-4a73-a8d1-8d331d287b6c CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2322a4d7-5dfc-4ef1-92cd-05efeccf2e96 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe24d550-9e19-4144-97e1-9b1557022586 CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e430647e-56e9-4845-8008-275a349e878b CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f86dd366-088b-4beb-a69d-af386cb57b7c CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd03f078-7cf6-4fdf-8b97-e8cefe4fb281 CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a77674dd-83da-41fc-b8c8-3ee18e1741c9 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a269bcdd-f137-4b33-a3e0-982e05af902a CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b22b9fa-1548-4bf6-9c1b-90e686083ba9 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6c0d5e-50de-415c-a285-25b9eaaec635 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e224e5ec-eef4-40f6-bb8a-cc76a2e79e54 CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c15711-c62c-4a00-ba0f-dac5c00e1511 CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a912118-8672-4c02-bda4-b2db00131a46 CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da349b47-a949-47ce-bd18-1fc6ab47faf9 CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c2698c0-0681-4f3a-bca2-e14c93857795 CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c9159c-c4ab-4c9a-9d82-f334cd590fff CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee233100-3b2f-41cc-864b-8a143ae51d8e CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f470728-5a22-43a8-b3f4-f7f351a4181f CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb715540-1077-4cb8-91c6-33bbf05403f3 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf5e696-ab26-4989-9ee4-3d40da986493 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a830d939-a850-4a2d-ab5a-50de41c59450 CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e14e1ae-7f1d-441d-b316-e48ee28d149f CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ea12d7c-9a6f-4162-a942-b63d82f753b1 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0893e8c-2414-4701-b383-e9f158480ecc CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bf01807-95e1-4549-9828-8a6d857795c6 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432f445d-48f3-4f79-a5dd-3e227e3acb29 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bb28ad1-bb2b-43dd-a53c-14dc0bcabb2f CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37711b33-b27d-492d-895a-774e1f950e01 CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d743e0fd-5623-47d6-97e6-04f677021568 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dab8876-7dfb-4a95-a9d1-c4fa8271f759 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74dc9122-b8c6-4b17-a1d7-69e2c95673d1 CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a862bd0e-5885-47f8-9866-de5414f40835 CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91aced08-ef5a-4d81-9a31-7bbde556ff6a CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66ea2c9-982f-41e2-980d-4ef554e8a0e4 CLINVAR:3340471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81daabdd-70c6-4cc0-8ce6-ccfbe91b8611 CLINVAR:3340471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b008b2-e0a0-4389-a4b3-31cbbf743b4c CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 124d1251-06e9-4edc-9189-a957397e885c CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9376a5-b316-477c-ac4b-a1a71e336103 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c885312-ad50-4479-bc05-e789e8e1cfe1 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c5c0ab-9d69-48e9-a004-b92d1a38b089 CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5fce93f-1d67-457a-80af-e6a9f90416de CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659278e2-9cd2-4c5a-bc07-2561f5a0d98b CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9b3af0a-4971-48aa-9a94-0a8435ca1110 CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9004900b-c85b-49c4-9463-5975db477e6d CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8b1da3d-3617-4d50-b29c-848326ca86eb CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af90eb64-0d55-4a99-a401-f7bf63a64a07 CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f54af75-3cdf-412e-b7c8-bf885deafcd7 CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb17e2f7-befc-4898-ae5c-b1db327c20d6 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0f714d7-c9a4-4fbd-89be-f0d8738f4674 CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58c17ac-0748-448b-8253-c758da0a30e1 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcfd02ec-9f1f-4cc5-8e6e-11017e6b580b CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49229bb8-9dbb-456f-8184-1f1559a56b71 CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f81a0cf-75cb-47f9-9b58-147cf8c08b53 CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc22809e-a0ec-41bf-bef6-2b31cecb5106 CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ff86b7c-9f83-4089-b43d-9af690f363ce CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692a1048-b81c-45ed-ace5-e183d53d1bc0 CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d3c96f1-f7fc-4de2-8960-2ee337013ac0 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a78d822-9bb8-4dde-9f69-e7fc3c1b491f CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb1154a1-3774-482c-b20c-076c88e5e85a CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231156ea-91a7-4e31-805b-952be493ef81 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34cb8984-357d-4203-87a1-1ca85766f2b4 CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e055a1-bb7e-40c8-ace1-d8b255435c63 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59071762-0996-497c-8625-b23c0abf86c4 CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ee5075-1aef-407c-8ac4-a3329a6642da CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92c9f14f-0757-4097-8a24-13cd49ba487f CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b865c1-10c8-4f55-8a7c-60c60bc8addd CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a8fa62d-fe4c-4537-b548-2deec7716a91 CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5717bc1-7d55-4df8-91e1-585081c5843e CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f83b308b-6985-4f1e-9ad2-908677d3a0f1 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc5b167-1967-4324-a1ec-2b24898994fd CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 276faf05-fbfd-4e98-826d-acc1abb74bb0 CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e9ec5f-3b37-46ef-b162-4bd3a5ecfe22 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a642727b-ca3f-42c7-8961-5083cc29e00d CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19280ba6-9bfc-47e9-be1d-020d5dfced30 CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c5e42d1-9464-4703-9d61-f54c3e53ea1e CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08f3c0d-ea50-4a8a-b8be-45434d3c9ff9 CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f6b56a-656b-4879-9394-e13cb625e052 CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdabf332-9215-460b-91e0-8f098f6ce4ae CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a019e3fe-09c2-4f7b-ad1f-2d2bc5b1992b CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de536f8-85e4-41c6-8566-dd572c788b34 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c149a6eb-7009-41dc-8c76-7db163519430 CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4c9777-9740-452f-a4b2-5afa97153781 CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5750465b-baba-4d0a-b278-30df611f449d CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4cad41d-ad64-4f71-9451-485c3e3bd02a CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 568e983c-9711-4784-a816-68069f620628 CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e87102a-db37-41d9-a848-96ecade00d0d CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ec64aef-b83d-4650-b942-1cffc52f2168 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65fc1948-216b-4e86-93d9-50bbc60e0153 CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe90ff0c-0c28-4dd6-87fa-68d6f6a4fee9 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2d0a1b-3305-4b7b-9494-5ce5877491c8 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f7a2bf8-a007-414c-9776-c964150bdcc3 CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce9a9fa-6da7-42c8-8a68-703ff5e028e7 CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 408db28e-47a8-4777-83a4-7cac118d2008 CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb90254-c1ba-403c-b41d-c5211682c998 CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75ab49b1-9ef1-44ba-8d47-20a5f803a312 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d294c11-a3df-4880-905a-9b322aa69a4c CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0aea3cdc-e4c6-4df1-946b-96a10765ea8d CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4939c391-6aaf-4bcd-9ac9-7777e38b8c57 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 651918d1-3407-47f1-8dd3-146e7a90185a CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff4bfdf-13fb-4b28-845a-06725ad4fd6c CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73a9183e-92aa-4929-b5d2-147d867ace18 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c4b8a9-4663-4033-9a6e-3c398960f0ad CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a243c42-507f-4913-a050-48157e7ca540 CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22a5232-b721-4667-be98-2a6d8cd58f25 CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e980fc9-c063-47dd-9f1f-34b592c59263 CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c49698-12d7-4202-8216-3ce5fbf49bf2 CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab9554b6-7252-488b-a6a9-8fa97af3b261 CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed668137-2c57-4bef-9e47-d39390c87eb0 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cdedca7-8e4d-4a2a-a898-ce15527205c8 CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53231429-e8f8-43ae-a680-7c764f1b95af CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 996cc249-c803-44af-871b-7d288544d756 CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517c5314-30fb-42d0-9716-c72fec459471 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b2a27d2-14c6-4620-b371-8e9c23bc1cfe CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1efac4c-3a9d-4fa3-8385-0f810b30bec0 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff75e3b-ad64-4544-95c9-abf5015b2f5d CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c483c604-b169-4f0d-abb6-4f448d2d5a5e CLINVAR:2865768 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49d5431a-1464-4cdb-bd0d-2cc2aa19e800 CLINVAR:2865768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ffd789-a33a-4958-be26-05c095ccba12 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0d03de-6294-46d5-9b05-a7153940949b CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5dba1d-fd0f-41b0-aa80-195c9f754a60 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cb31d84-b1d7-405e-b16b-f90b4c946560 CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c84a024-4300-4393-ba16-3fbd79340b68 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 608f74ee-fc90-4e00-8530-325b2d50052f CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b07aadf-5b8f-4071-bf79-85fe4bc9238a CLINVAR:2831823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2875e14-664f-4d97-a889-8d58b3ac02c1 CLINVAR:2831823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7878f0-67dd-4f46-a441-29c2fb1912a5 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12a558b1-38df-4c34-80c7-72093e5c6ee2 CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f31ca16-b43a-47c0-ac3b-df4839fa029f CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 135b2ebd-7e02-42ff-936a-3c7a09a48153 CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db411bb5-b98e-4289-9ea7-416818830195 CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5064d51f-7807-423c-95ad-1c81c4cae082 CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2fc796-5671-46c3-a576-d93486c59137 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 207cb2d5-8643-4733-8a64-bbf268135a02 CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacf8955-17de-449a-a134-47dc040a4223 CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b20b755-c4ea-47ed-bf44-342025e968df CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71177f5b-a80e-402e-900a-70a3e6b2c02f CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7373d505-d067-4b4d-8724-84c9a84e5145 CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16bfa612-594a-4253-b584-9f6d79f69402 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2b17946-8dce-4aba-82a7-16ae8df42daa CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab9b31d-57d9-411c-bf34-bc253275a76b CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff453139-985d-409c-b6d2-0bf10377702a CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c8ed89-b9d2-40bc-832b-a8c3a038826c CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c952e1b-2079-48b1-a8b2-b8e446fe652b CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa86c61b-3443-4f01-98ed-d1d207908d0a CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0190e654-173d-4c20-91b1-b7bc21a40a81 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45adea4b-10f5-40f7-9053-88a096b19a4e CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eec8e56c-b4e1-43e6-97b9-d37b7e362afe CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c7f496-43ce-4502-86aa-21fb3b25123d CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74ca159d-397b-45cc-bcc9-4b0fee0cbcf1 CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7d7b05-3f58-4c87-8c0c-a9235675c65a CLINVAR:425864 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 964f2380-de7c-43f4-a2af-433592f5f34e CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ba4452-e769-4453-8bca-a1742036aa3c CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ab244a2-c3e9-4fb2-959f-ec62da6c346a CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d119cc19-39ae-4756-b0a6-8709f8c4217d CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91a91a9d-f150-476b-97ea-54db7fac8520 CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a23b52-7cdf-4d8f-b2a7-0eced07c42ee CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bad97da8-c691-43f4-8dfe-6b725514ff02 CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef593ff-54b7-4231-bdae-4fd7e43b4b47 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4c3d80b-8b24-4b92-898f-9be44b734199 CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b53dcb7-611c-49ee-941b-63d85b29d5f6 CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72949c8c-36a9-4846-8d1e-83e2cafb51b5 CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e724af16-2b1b-4fad-9e76-56eaeb61463c CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0541aec-bf4a-46ac-a4cc-3da75c0ad1ff CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6098f99c-eff2-4e02-bd58-056b91b1d848 CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d0524c8-28de-4c30-9bd0-889fc292c3d8 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1f6736-6d2d-45ff-8529-077edeb7cf11 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0cb76ac-5320-4a86-aa8a-2b5e47a7b856 CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0928d372-4285-4679-b28e-c08d8e6ee9f9 CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba90bec1-0699-47fb-86a7-0b34d3e53a43 CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737cc969-ce5c-49cc-aa67-4ac6f6b9ff0b CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d93f40-f685-4643-9fa8-8fb5b83a1aed CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115494af-1d00-4006-93b3-8bece320fcc9 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbbf0c58-8389-423f-a077-9e6e680f21eb CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f83c704-374f-4293-8bf8-5a52896bf2b5 CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59fa9cd4-c03c-4bcd-8188-21037c46ef3e CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1dca9ce-7b61-4cf4-8862-fb05c3f8a4a4 CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260a3432-23ab-42d9-ad66-ada2112de549 CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d155438a-bde3-4e53-a2a2-03063d325a13 CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 001be0af-f977-4efa-80ed-388241af0af8 CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6baf13-b7df-4e73-ba30-1834354c3644 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cf5127a-5acb-4813-a7f1-2afaf362026a CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f634175b-518f-4db5-8ad7-796f953be42f CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49749daf-1053-4225-b8df-1bc59c0fd49b CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea761b6-8ff8-4ea5-96ae-77c1e835b7cc CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c85d5f9-4f6c-4b96-bd04-5211c906b112 CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9e6e62-3d48-449f-84ca-a78f36660b2b CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51d6cad4-bc87-4566-8d9c-7d6dfd2ebd54 CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b954beed-06a8-46ba-93b5-cd17c7c4e7fa CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f294b05-2048-42c9-84e3-0d8c0008bbc9 CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef0b99d-7886-4666-817a-01571ff6a001 CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af85f255-ef8b-4260-86a7-b51b6d1bdaa1 CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830cc042-9ecb-45c1-bce9-39b168b29143 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 100e087c-c557-4164-ae63-b524886c479d CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472d0f21-74c8-4eaf-b927-e7a9b3212972 CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a7ba646-a384-463b-88be-43f1c948da54 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4000c6-34a1-4f1a-a7fc-177dc9350977 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a57d0a8-e00b-4ce8-bce6-164355321c89 CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cedbd1fd-716e-490c-b8f1-db26db50ee73 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fab54e69-6d98-4389-a6bb-06fdc35b82dd CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1f019d-0817-4156-8208-be4afaf17e46 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8614ba6c-bce9-4b1a-960e-0d3f14c22cba CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae87e444-8b58-480c-b528-99f79b5bf272 CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0265f0bc-7624-4f62-ae7b-ce36475e2304 CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98d14c0-d317-4faa-a6c6-acab792607f5 CLINVAR:1556993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6cd65d9-e655-4d59-a0b5-9710be8b53c6 CLINVAR:1556993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aeaa55b-5d40-4989-96c9-909aba16d258 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47b298f9-dfd0-4805-b7f1-ed5d6999aba6 CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d03880c-9b98-4532-ba84-d57363815acf CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf63c7b6-cfa3-4652-8eb5-b7759dfd8705 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b19fbe3-f85e-4621-83e0-5fe51caac8e5 CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99343ac3-d1eb-4b53-8a4c-66d928d51ae0 CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e13b8d-eaab-48bc-8403-3e1c797a900c CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a25ad072-2e14-4234-a3bf-0d4d361196be CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98de0477-00a4-4f0b-9eb0-9f5f97083885 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d329114-6cd5-47b7-912c-1d4515b6f8a9 CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059968e4-0817-4490-a990-3bfad09a9973 CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dcb728f-2c4c-434a-8a39-b7601b9b2c74 CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acbcfc20-9ef0-4be2-8b9d-f7484f41f9ee CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fcb17f4-acc8-42e2-b44c-9d2bb3d40cb9 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40764ebb-e9d4-4765-bc9e-a49df24a148b CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 478d3364-039f-4975-b0c3-ea34eda2d2cd CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42250b5d-70b3-4de7-8ba2-fd57a8d194f3 CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92e8ae0d-4803-42b8-9ec5-ee556b067027 CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf5558e-67a9-4136-8fa1-cd4dc6e742b7 CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4f06f9c-e204-4bcd-9934-d0b668ff2744 CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38fa002-ef3e-43f9-a270-4635e4c3cc50 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a131b438-fd58-47fd-8674-96c3d9e28575 CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef697eb-bf4f-4d73-b96f-fbbe35efbfa1 CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 099406ff-eab9-4559-8dd8-42ddeb7ec047 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc44f5ff-4100-4e52-a236-1b5d1c3aae03 CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d71d32b-e65b-4fa7-b061-2b1fdbf6ff3b CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5d6153-da07-4ab8-9a05-93009c6977de CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4310c7a7-327e-4af4-b6ff-7db2c1b18989 CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e78601-5a8a-40d3-bb6a-12aa19c4ef9f CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63c11aed-9740-4a12-a555-c5c49919af4f CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12a3d27-ed84-439c-84fc-2200d87b3991 CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc1c648e-2130-4d45-b989-14170174d9bf CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2688f452-5965-4deb-940d-cc3b0e2dbd19 CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 728254f4-272d-4407-8333-0e5c201ba41e CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6660b7c1-a99e-4c3d-af1b-9870b85b9e00 CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dde295f-2800-4f3e-8f79-48ecb7740aa7 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515e99f7-2b77-4e8d-8e85-b475e48e51dd CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f95b8617-6ad4-4170-b781-6dbf027fd0fb CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68f6481-aa3e-4d39-996d-b1bf4b00a9b9 CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ba4939d-86b9-4f50-a827-ca7ce1afc873 CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db74472-a353-459f-950a-0bf9eb6e3298 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0303d7ac-04fc-465f-a2d5-4258effdf400 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdf1f20-3693-4583-9abc-0130cef3caca CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca057bf2-e7e4-474e-99eb-c35120c79fce CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ccfee8-c6dc-43d5-b7a5-eb07a5a41862 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1d21051-f7c6-45cd-addb-b4036f3747a5 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ebdcc9-9906-402d-a32a-fb2ff66ba41c CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 616c6d22-df7b-4edb-802b-1222ad8fa0bd CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38aa3a24-3cf5-48ac-a6d0-9f8804c6d5d1 CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ed0f514-65ad-4894-a607-ba0e94adbbce CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47745da7-bf7f-48e0-9412-887cfaebc2df CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8f77b6d-8d1f-413d-ab13-aabf5e87c39c CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ccec3b-b51e-4261-bc55-d278c1708c27 CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e1751b9-5963-4049-b640-4fcbd4e855ea CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1441aa8-2bb6-4869-9c5d-3d4e783d9fc2 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a85cdf5-44e3-4428-850c-1e320ad5abf7 CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48c84bc-48b3-4972-8f7e-48626960642e CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c81dc919-2e2a-419a-aaed-e33c2b883091 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8106e116-4811-4308-93f9-fc567934baa8 CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2de326ee-6a04-42cd-bc60-6e9ca846fb1c CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5c2305-802e-42e5-9cd3-313b6a7399ec CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66ea4570-3dd0-4f72-a7ef-023414ae472d CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25417cf0-f90a-4f9c-b3de-1d75913a236e CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18ab54e3-edae-4128-9ff0-6a897ac8c663 CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a8a0b4-fc6e-428e-8c7c-ab0485a61f73 CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdcf8c13-8e17-4b46-bea3-8cbb159d89ae CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4416047d-56a7-48c0-9b60-6381ad3a3279 CLINVAR:1351602 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb9e0eaa-2d93-411c-a0aa-7a9a6d4cbd1d CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0523fb-a56b-44ae-92ea-c8e4d6c94ffc CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12ed6624-5e06-4894-9326-a7e190f3da4f CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adff75d7-0ac3-4725-bad1-d06056a4810c CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab277e6-327a-4d9f-882a-e61635ee9b51 CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6302eab0-f91d-4a75-84f5-15b026e3ddd8 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41bae937-62cb-48e1-83da-834299a9c707 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b598556-759e-40f2-a2e1-66bd3462fa71 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f860758-ce6f-43d8-a156-7c339b092c4a CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da9910cd-45c8-4a39-82db-828fc283a5bc CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11957fa1-6587-4c56-a1e7-05307bfbb923 CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31eb097f-ec08-4527-b6ba-d4ec7b465ed3 CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f551b0fc-d83a-4178-afd4-e9b8f045f3f2 CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9bdcfd6-bfd6-4386-8d05-8f4d16bb9aad CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50df59ce-e083-4bd6-8de2-d7d2bf0f9545 CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a89aaba-3668-4d4f-8be9-fd5520725228 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3d03882-db0d-4e4c-b782-b12969d241c8 CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db02212f-e909-435f-a818-706268112844 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c659cb4c-7288-4e04-a69b-18136f63b238 CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba419e5-6362-408b-975e-545dcb6b25f8 CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cd512ac-a32e-45af-ac58-0aa707f0df72 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29ada9d-523a-4925-b1ba-c829dca9927d CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 817381ea-732d-4f66-a913-0d84224881bd CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110ad09d-c43c-41f7-a5ef-2c4e3633aa7e CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a68051d3-8c6e-4302-9672-ae3ad98fd345 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3213b0-7392-4b59-8464-27568751964c CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdb0f72-c8a1-4a9b-8048-da0f97912f1e CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfc14e5-b8bf-4af1-ab21-033333a447b8 CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b184f69a-d132-4745-8429-6e97b1d8a44d CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d98ed75-0f58-4313-921a-a4fd8a3a9d4f CLINVAR:1701951 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bb317c6-6c45-4a8c-b6de-60f3b2fabbcb CLINVAR:1701951 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29de9ca9-9bb3-4f39-8186-eeef83bfb3d6 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19835fa0-85c3-44ca-8391-9c6f6c1e0ce6 CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5aebea3-54b6-4555-b19b-c8c013d022bd CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2344cb7e-2394-4619-a98f-84638bf694e4 CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c821a753-90f0-48af-a26e-807e8889eb1f CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 860b64a5-49e8-41be-bbec-ab47c416b0f8 CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04afa86f-ce22-4891-ace1-e41db66e5220 CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4191a25-8fa4-4397-9e58-d778752cb1aa CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdd3b86-0f15-4582-bbbd-214a455d9382 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d0d8ec9-4c69-4597-be3c-a931462bc527 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadc7a63-1c11-48d6-aa6c-f0b66ed741f8 CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e93aadf9-1bd7-4e15-a36b-d9922a2b559a CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6800cb29-fc51-419d-a9a9-31f88cddbf77 CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffa5c174-4d8f-4ed2-b431-f03216a7941b CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec17cf9-7e25-4cad-9d88-65dac0d24790 CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d698e63d-6e29-46ff-909d-0938c45dd0b3 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01584ca2-0ed5-4817-8b04-68cf3fd9f02e CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 921d0fe9-16b4-495e-be98-61b692e7cc04 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb85804-44a3-454e-add4-9df67ca0cb1d CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75f0bb93-b9e7-4e57-afd0-195699053fe0 CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b21ded3-a5e4-4b83-b920-b015291e61d0 CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd4e0ef3-a7ea-4819-8d56-5c559ccfd8c1 CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b437e64-c68d-4345-9bb4-e1f85b343f4b CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 662fc8f0-54b9-4fff-9632-33fdd70bf8b7 CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab0340d-e61c-4005-9897-a47e5761a64c CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3696b3fd-6ede-4c59-b965-409635d9dddf CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917619b4-ed61-4ea3-94d1-d4ba52ad490c CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36fe8cad-0d69-49e2-bd2d-3c4882ba0364 CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6e7083-a273-4d4b-8465-73ed83da49ef CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cb15365-ed2c-49f0-9468-33cb74576d9d CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e292a1e-f2da-47d8-89d4-8fdee937e9f0 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cf16c46-cc91-4b66-81e0-e0203b1f710c CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e8abfb-a467-41ab-98a1-a759c485dfcd CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e24433c-66f8-42ae-844e-838511a5fae0 CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c1e261-1ccc-475c-9030-9ea4d01c3feb CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0989f361-0706-45c1-a241-be0e633f8483 CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c437bcd-47f6-4685-b691-c449685ba022 CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad912848-adfc-47ab-b6ed-86c7b9fc07fa CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d438c00e-0269-4d4b-9846-2829a73f1b4f CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d251292e-e846-45e4-9c71-25faf027ce9b CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5af84f1-7f59-4999-bba3-71119294a42b CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf136a78-9a1e-4843-b59a-b6125fbf8fc3 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a861da8-3727-4a21-9da8-d1325c55a6d2 CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e35b30f-43ed-490d-9c45-1809d4194533 CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56f2674-2e95-47eb-a835-55c12f6ab63b CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 066ec812-aab6-42d1-8ef8-80e8b422b562 CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee1277c-9fb3-4571-9d91-989b778f9b05 CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac2ae7fe-0fe0-4c85-b1df-77260638bc12 CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15324e2e-580b-4960-8c74-58ac30e36045 CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54773ba8-e5d4-4c71-b68d-5f4cf9438572 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425b996a-1208-4e9a-893b-2f3ed37878af CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f85387e0-39ae-4d74-8c38-e5c961d3cdf5 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59392ff1-4b03-4735-8b10-4961fb08147b CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1b480e3-6bba-48cd-9906-d3ab38fe7aaa CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4991b5d5-7276-4a3b-828f-7af03c95a584 CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 712cbfb2-2bc6-4ddc-b692-33b9adb792be CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0784c553-e5c7-4ae5-8350-425a9506149d CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c272ba4-4e27-4b5e-a960-38db05162de2 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff42287-5b79-44ca-bd0d-83ab1aa755ed CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aff64d7d-21b0-4df6-b82a-30e8e8617d19 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b459b55e-5ff8-42c8-aaa4-b54bde04838c CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ccc66ba-40e2-48c2-ac96-1824d2bf5769 CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8091b149-ce6e-4962-8c44-541576fe78df CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3dff553-0c77-479a-9dbc-8c96f804048e CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a522365-6c17-4251-9185-4acbf3a26e1f CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee84130b-6c91-4c0c-b929-b65c46a3cbe0 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74403307-8ce8-40f3-a4f4-3a2cc6932d03 CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01bb59d6-0287-4ee7-bb25-4fb5c57ca717 CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e745c5f-f306-4a66-91c8-9b091974b692 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fce4d746-36ea-4a3f-98bf-727a194c5ce2 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a70af04-fc31-4d3a-8223-3870a1bb0b60 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3333d1c-29ca-409a-b3c0-c1e1a0eac7b8 CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf73894-d557-48b3-ac0f-4e4283a60090 CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe0c0289-5875-4b83-9ff5-75b269bb5ae8 CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b567e18-e795-4f4d-b27c-d82991080a7b CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bb53828-35d4-4f55-9d81-96cf14c10fc6 CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd89d99-3c83-4079-9479-27142fc90711 CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0480cb6b-13a9-4a40-97ac-1ce692444ef2 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350d6d53-5d64-4bd1-b75e-e9eab6355d5e CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f265511-3218-44c8-bb2f-6f4ac97f19eb CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4629dec6-31a9-4770-be84-b7610b2d607a CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b4ab2d8-3191-4675-b35a-2f85e2ec2f0b CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f648439d-b1c9-497a-b527-b49c389e2e88 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fadb164-d1c8-4817-ac98-7e1154a8856e CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e26f721-4917-401c-b8c0-e74a85d3db5a CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9b8d039-cfbd-4b34-bc35-4d33a5cc3ddf CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb91024b-a566-4909-9370-c8eb7dac2696 CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e022da23-817b-4762-9539-1ad4dc6af5de CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc47e2be-4617-4378-9f7f-32df97411c21 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bb1f614-fc44-4b1f-9995-fc8882883a66 CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92490362-df3a-4d2b-9845-d672e7faa312 CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c6653f3-f7d1-434a-bd29-40c0bca16b04 CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e5d4c4-8597-46d6-a3c9-4bd562a6de75 CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82fba2d7-1f13-4d45-8463-0ea092a6d10f CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6061919d-f4ad-470c-bde2-fc5f151ade56 CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 855e10ca-db9c-4238-8ca5-d64d1c600551 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c52ffe-c219-47bb-909b-16d13c1d5d38 CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43de4066-445d-4f41-9285-cb381b8cfde2 CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129f4ac9-f0db-4b3c-9f2b-382a6fa8738c CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e855dacb-beae-4e9f-b47d-f295290168c4 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4ac0d2-487d-471b-8663-76a39dd5e29f CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20f3ca81-4cfb-4fda-bf0d-dd02555e6702 CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779770a4-719d-4e3d-860f-12c5584820d9 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a78aede6-8680-438e-995f-3e53364a70a5 CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a1776d9-ccec-4691-92b1-551bc973ac66 CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c9c803d-d293-41af-8deb-b0ed9d3cacc3 CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727d5a64-6bcf-46ee-8dd6-47601f410ae0 CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af3b3032-eaca-4925-8479-a805b1d13d5b CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f9f908-3948-4402-a8b1-25a9cbefe224 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7117d7-bd85-499e-a1f3-74784a6c84c7 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55caae75-9ab1-45f9-b44a-f864a15dbf32 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 483212cd-66cf-4cf9-a179-882725abfa57 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa103cff-d776-480d-9f2a-223b88aa7c85 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70c5cb26-9532-4ca8-8a5c-1c9c03cd6f89 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9ab8d8-c820-41c4-a307-3d7c5a04b696 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e22a2aa8-74cb-410c-a0d0-88da9369bf50 CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a580e18-bc67-430b-a005-64c08b0b538b CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dea362f-7341-4a58-ba7c-f97b38444a17 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed398972-2753-43bc-b421-cb52bd2dbfe1 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ad783f-75fe-4001-bb40-80c4bc194eba CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ed4b64-5362-4b89-8780-c896c159bf5d CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6eab0d18-bd88-4749-80e0-4e78eba9616a CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 400f93bd-4bea-4bf7-94af-1ed18fca99a4 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2df4eb41-3725-4d0a-a4ee-9d09d92de6ff CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29350fa-ba03-43d9-b932-b7b1b959c08d CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cdffc87-cecc-441f-8d13-608e3b44c5b0 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c188a040-e266-4243-8774-df361d4c0ac5 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8d36eb0-4bec-45ec-b21f-03017283beda CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfa1ce6-161a-4f6b-828d-e2b0136f3d78 CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2920c67e-9481-485d-bf3a-5dbc8f16c93f CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d6f4da-dc47-412a-90cf-6e52f123ec3e CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen defc7570-b58e-4c2d-8cd4-1002b3a3daf8 CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2d0f23-6205-4208-97cc-45941e795686 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29682858-d7db-4a1c-b312-836bc4351233 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ca21d2-3fed-4bc5-970d-05984b91f627 CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0050d61c-ed07-4064-aaff-1eb49d6b1855 CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68acba0-d8b7-4fe8-aa53-6253ad8cc218 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8653dac-affd-466c-99d4-85e6a15e8f6e CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b4b85e-b03c-4aa9-8fab-9263dbf3ddcb CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 735bc70f-ddcc-4a82-a0a2-43342f026bd6 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855ab13b-c337-4fd1-bf84-ec5443532fdb CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abfc3634-b54f-45e0-9a32-986e62066e52 CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589b146a-48ae-47e1-9157-1eb998873385 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0a61062-58ab-4b92-8fc7-11c3eaf834dd CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9d6c57-c738-4d01-98db-8d7fed2930ae CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9dea204-a92e-4dba-871d-c41cd31de3f4 CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536f88e0-0cc0-47e7-978f-bf5595ef3f43 CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b7c7ad9-4c12-44e4-87c8-71af53336e5e CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ed4c7d-97e7-42e4-a177-23a6bace4bb7 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb838651-a4a9-4b46-acbe-590a3c80902a CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1789ec18-ffa0-4a13-a2f4-2178bd2cbe1d CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869d0426-61dc-4a0a-b050-3ed4d6f99cd3 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29de2f77-f75e-4af2-bc8d-2c93996f5d66 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c8d84e5-a7c2-4393-b2a2-27c9409b8092 CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a060d97-dc41-404d-822c-001b35877d32 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 346a5a09-e735-4e18-9dff-093174d99598 CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb3bfb9-4e0e-4bce-9185-52dec1e5e99a CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79e94b55-284c-425e-828b-97eba67b6d3c CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865a0d82-90d8-484f-bbeb-7f85b6823025 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b47be32c-3e7a-4f05-83c8-ee612984bcd8 CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78471c9-dbc1-4203-8798-fbeb30b5840b CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d9c60b0-3e82-45f7-a9c8-debe85af8d36 CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1504e1-b131-472d-a9bd-1d1cc5ef8ad4 CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ab8d84c-db3a-43bd-a23f-c3c263365e37 CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6847e298-4cfe-495d-b7ad-dac3a37f954d CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f2922d0-2246-4e5e-92e1-91fdf8c8500a CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42dd0e29-b94e-4571-ba23-4155fe09d35c CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e59ba08-8bec-4d07-887d-b87d466984c3 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69d3099-88fb-4532-975e-5a0ff7d8e85e CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69385208-d8e5-4c54-9147-77aa6781e97a CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac005a6-cb9e-4cdc-8d8c-ef5e01160c08 CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 509321d0-ccd0-4f51-a2bc-e39eed3b511e CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e852d5-bb5e-41db-8c14-d6a028e7987a CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 444086e2-8d4d-4acc-8cba-768c684eaf91 CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4bfa18-e613-42d2-9e6b-9d1515154f02 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a212e39a-acce-478f-a46f-38066b220958 CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea50a79-c4cc-446e-87f8-66d9df582b43 CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cfdf415-c08e-4e97-b390-3eb60b39ec1a CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e253f3-b7fe-449c-99b6-4e689ae90cd9 CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b83c885-2552-487c-8fac-79eec239f55b CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6962dde4-e20f-4900-a34b-b4fc2e3aa51e CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe4bb451-4090-40d9-88bd-bcfeb1c4e594 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b570b30-b68b-4606-99c0-f153472b4266 CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf91dd7d-9cc3-4b14-a89b-f95402a0390d CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e66350-b5b8-46b4-b273-8fe0fdf3687d CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 125dd30e-72b7-4765-a906-3f24ee587216 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811cd30e-df37-4a6d-8441-f85e0878f45d CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69c8d92a-f749-4150-93eb-46a9d6470a28 CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1afb24b4-3160-4263-b949-b87021012dcd CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88bc8a35-c180-4ef2-a681-413d62803d4a CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58053513-034a-47d0-b3a8-31e027bf78c4 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa153435-cf2d-4254-bc2f-1e2842ff1416 CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10b3117-ac2b-43dd-b6d8-ea33835fb495 CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6328466-d88c-4d42-898d-c9f97ff9282e CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f95c6f-59d0-4286-aa79-e0778bdc498a CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c193ba74-421e-4e68-b700-340757239e90 CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f520938-c2d4-4210-af14-f4a69bd42d7c CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f16f7af7-6590-4f64-9527-88faa7ed992b CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa363e49-1e0c-4ad6-8543-37299e48e214 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32be8ff3-03d2-48d8-9121-f8a84ece42dc CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105afe84-ed0b-41a9-a3a8-372866f7b0fe CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93ea9054-c994-4ce4-b40e-6ba89151c090 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a5cb33-d71c-48c9-9a39-2f7fc73e6f18 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66855248-7743-47e3-9728-ddf55afedb4a CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704ab161-b151-4bc0-b268-0acea9385acf CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a87f843-60bc-411d-a347-faf0feee9560 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3d2d86-5591-42a5-9a5c-d6cec091490e CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad35646-0f59-4da5-9062-6abd1dcac806 CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3284008d-a5fd-4578-aaec-a10d01917e3d CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 826f9748-fad1-4b5e-b676-ce07a981acf8 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8df589c-b6df-41e9-a0e2-0dd4491a24eb CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd918d63-f61c-41d2-a3a4-6fe31fd5395a CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95984462-477a-4798-acf1-3f88bcf4a3fe CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca60bafe-10de-4343-8539-e02890609031 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668df5f0-e52c-4184-8a62-5754c405c2fc CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc1854c7-2e35-4ec1-a2e3-392ba619e7db CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8ab92b-fd48-4132-8ef8-ac58b0d9c656 CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dba87eae-bfb2-418d-b61c-820c2ce42f26 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bd3a74-9385-478c-abc8-57c993bd37fb CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8705c8a6-5dfd-4af1-945b-87eb0fa64617 CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0343e308-b34b-4e00-b563-c2ad4c08c1d7 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be491e79-4b38-4f5e-b277-6ce21a83eb35 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeafcb97-ae66-4863-a537-d0f78c399028 CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f15ca15d-5051-4364-9ebb-b23ef9ab118e CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098cf700-4b05-45cb-b413-adeebaf0689c CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e12a112e-6878-4567-9690-ba3b7eda3dab CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40971b1-b085-48d0-8672-f4fc3d9749bb CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea53f788-b428-42f8-8b28-b772f5adaadc CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc6b932-f80e-4ad1-85e9-0420c70dddf0 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb013a04-91ba-4c1a-9b19-43b7291cfb71 CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f7388c-5692-4ab5-b361-34202cd9ede7 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2945a2ed-9988-4fe0-9e60-affc191a47b5 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86e294d-e68b-4a29-a5a2-4bbe1bcb9000 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7320eaac-04e4-4791-8e3b-e789e017c7c8 CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6cc71c-86ab-45a4-937c-8d264a35c21b CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5134ab7b-6c52-4d3c-8aed-5c9c1273a9be CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17522d8e-75d4-4dec-81f6-e723cc1c26ed CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96387d61-3618-4008-b763-76221c6747c5 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ef7e81-d364-437e-8c0f-8b554c430466 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01a468da-c120-4353-94c5-febf7693db55 CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73e3f55-7570-41e7-8b51-3e4ad8eb2488 CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24302866-254a-4128-b568-24135c96d05e CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13f6b5b-0f00-4e19-9d6f-5586ce6aa113 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bf71b82-6f4b-42de-bc0a-a9d9c18b4770 CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0125eee4-fbd7-443b-b337-1da6214a0be9 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef3793be-1222-40e9-b23d-51f2846b89e3 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5ae975-9115-4e74-9650-2bb4ad42696f CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffe2b0c2-cf61-4efd-a218-9052ad8177c3 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1f3aac-47c9-4cf5-9f05-9200d3f1639d CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57d7bc4e-0b66-4034-8d09-aa5db16fb0a5 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7daf6525-d6f4-49eb-9cdc-97ba604fd2da CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9563f487-8287-4b92-afbb-94bc45a05d40 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60031570-667b-4e57-87fe-b35eb44e23c5 CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0810b7a6-233f-4941-bd04-2f1b914d6975 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7107f9e0-9df3-4ded-9c07-9eacf315388e CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfe955e2-7d8a-4951-950c-ae9860303115 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d895ea-b39b-45d4-b2e9-1c86afbfe657 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77b030b8-8e12-4624-867c-d075b0d7a8b9 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff072d7-0af1-4ff5-84be-334a6797d403 CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68a66760-037e-4e46-af17-d0629dbd2fc4 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab4cfe4-63e0-4bc5-b229-f48971976b23 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d6ddd00-942a-4a65-8ccb-af7e495dd11c CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e43232c-736a-42da-b67e-44066692fbb7 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19c60c92-5ad0-4ff1-a074-bdc088b44b37 CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38bddea-3ba3-4529-a64c-90b678aa1c0d CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbed4ccb-b952-4f3c-beb3-0d67c1ef05c4 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fcbce23-a822-4625-a81c-3664cb997020 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d439ea4-60cb-4d32-8458-90d90259234f CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d077d89e-a23b-43b7-895e-d32663a8b8d3 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff2416af-e0ad-49cf-8ce3-83ec7e01771a CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460ed6bf-366f-43ce-b0dc-3116fd87816e CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 824b49aa-8a32-4367-8fd0-13e3a840d8e4 CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3577d4f6-3ebb-48d6-ab1e-b5fc12d5c748 CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc0d0a49-40c7-4623-b7cc-e209019d5b6f CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312f248c-0d9b-4280-a376-4971b3df106a CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f5f94cc-d934-424f-8cfb-3d4eda906ef6 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 188216e3-2dda-4ef9-929d-956bf028b373 CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be01a656-126f-4303-9a83-45cc909613da CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45840151-675a-4da9-934d-df8342b1b8dd CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e5d25cb-5378-452b-9508-08059e35b52c CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3566876b-ea61-475c-be68-5285a3307a5b CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09c3b0cf-a197-43e9-be74-c2317647f235 CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5681d736-0ddb-4fc2-9d4a-2852a68be50f CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e981de6-1495-4418-ad00-d5024ebdda6c CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c6d0dd-9055-4c86-93ef-f92fabed827b CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6e17f3d-4f46-4614-ab44-663131a7f7cd CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e5182e-0198-4a01-8f3f-90d85fe0d8db CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6299ab0-e42b-4b61-8489-7d36280df360 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7604529-31a0-4c80-9c2a-07de7489a793 CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b48c548-6773-49e6-9a54-2ead7809e7c0 CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ac6d36-bee5-4f98-bd1a-b766c3f1c960 CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec7b3618-b1cd-46df-9bbf-4d634809ed86 CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5c5c5d-de29-468e-8a52-ed50a71cc53a CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b98cc7bb-af5d-452a-ab6c-df47296f40cb CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add888cd-a372-41f0-a40b-5eb4a102fdba CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbca0d6a-9fee-4fc9-a120-c04ada05c24f CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe934bf-9601-4405-975c-aff723006cfc CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d54b8119-9e1c-478a-b2b6-426d526f613f CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ab1bd5-d5fc-46be-874b-57f302818a54 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94548b73-c2a0-445e-9566-03e06bbb2619 CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6afda75-9d3d-4124-bf36-33ac9f9489af CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f435ca-59e6-4591-a9bc-115dff7de1fc CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0229f6be-f973-47f7-a518-7737734cfee0 CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ca624a5-88a7-4e45-8093-02641e99a9fb CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7bcebd-d616-47ce-898c-eaa53ded463b CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85784bdf-d809-4858-863b-b34e61e81e27 CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5027ae3b-3647-459d-94e1-c467c9250865 CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8aaa9dd-36da-4d39-b9e9-5083459e4be7 CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b25b30a-ae4e-40b8-804a-e8a083a4dd69 CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0523438a-7c87-4d59-b4c1-ae8f12a4f4f8 CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09ce802-ac52-486d-b3e5-c330b544a859 CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84e14cc7-15f0-46b8-b98d-8db9dcef5ac7 CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a05db89-d30e-47b6-bd88-5c00333acc4c CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f15bbdbf-4748-47bf-b2e2-a518676b2036 CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8200225-eb99-49e2-92b0-284c6d9be99d CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f7fba2-e0aa-42d7-96d5-872248ee6c37 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1111049b-b5ec-4efc-8eb1-f06c420957e2 CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51d36c83-2fe6-47ed-8239-0dd838db9471 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c6ea82-4b7f-40c5-8818-733fafd0dc0d CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90af26b8-0453-4afc-bf0e-a4f04de7cf1a CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92af018e-4741-4c30-b389-f48e9f34aed5 CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d298bd4-126c-425d-ab89-94511d9ac9c5 CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff94e13-7ccb-443e-b7eb-fdc28ece81e0 CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d050d0be-61b5-4aad-86d3-3f639adef2a8 CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b54da49-b164-4e18-9ae4-ad5b1f513dd0 CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3b96061-03d3-4f2d-ba7e-299d84f6517e CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de73a1a-f2a6-4649-bdb4-30599e86352b CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 056615f3-6441-4514-9a95-68232c567041 CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57203044-36e7-4d2e-8363-e0a5645b054a CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 785242b7-e79a-4f1a-b54e-3f0c2101cbf4 CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff44120-bf09-4ddd-bca5-9a56e025cb08 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6917fc6-fc7f-4fc2-9c91-7377c23b1e3c CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d62802-735c-461c-b850-7e7e96142187 CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5c1571d-7482-4435-83b6-bb52ab212e16 CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783fcf94-352d-4ee0-8600-07068c100559 CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 900944c4-83d5-4ba8-9d8c-46726f0a25f2 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee72190-9436-464b-bddd-3293cdd45d3f CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9037207-3f3b-4b08-af4f-d0243cba9367 CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d63c3ab-d38b-42e4-971d-e1815061ac35 CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0099d207-9eb6-40e3-8d64-d38cce78be69 CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b131da1-1c9a-4340-8801-73bf2a4ea3b1 CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99906643-306d-4d52-ba9b-12da6248bb8a CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2681753-d10e-4d27-8617-e7ea0c12bd65 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af25cae3-7804-477b-b409-5aad6ad79581 CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71808583-eb7f-4794-8b8f-b1813407fd8c CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d502f80b-6e43-4e35-bf35-5436e4ae8985 CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccf041c-49ba-4b82-bae8-b4f7f96b01ff CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e37d51a-f6b4-4976-a567-28498cba11ca CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a8fa56-f38f-4adb-a008-53709826766c CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26f6db76-8419-44ab-88e2-dbcd301cb218 CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61930f9-1a2e-4c52-86e8-20069191f60b CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59848039-65b0-46da-a5a4-ff7590b67668 CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a948206f-5346-47d1-aac5-d65d673623b0 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74f36325-90d4-4e5f-9346-0727acca0a4b CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51dc365e-8fe7-4512-b952-20ece43bee91 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a195a7-6df0-46e4-8b0d-bb5d7407ee18 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2410479c-5c9b-42c9-a606-7243a52bb97c CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc774c14-5ade-46b6-8da6-9526d872a9b1 CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87db8a09-5a68-49d2-bca1-7ab7513b8961 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2862d478-122c-4235-8f82-3682c10a6b6f CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24acc5f9-f01e-463a-ae68-457ea394d747 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72ee84e7-2579-4a58-9466-4d28a6c74521 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a51f2ea-9353-4f29-8ef0-806980249e46 CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2408c46-83ec-4540-b132-c26dc67b3d5a CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3589e17-0f23-4e48-9778-cf42616e79b9 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ece03d64-3645-4c31-ac26-dbb89f946831 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d65eff1-b74a-4140-88ba-5f808a0f67a8 CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bce3e2b-7a78-4c1c-8312-4bbd73959339 CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69222613-c80c-45ab-a7f1-f2e31ab4cfab CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 026a12f7-607a-40c9-b776-648a03cc9d17 CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33b6100-5167-45f1-99a4-cb069be98393 CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f26c62e-c2b7-45b7-8c0a-179d4852ffef CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5bd5e40-2bc9-4ac9-ab73-3230721b6f57 CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28974f2c-b62d-4eb0-9271-6de69dab7eb0 CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbe523f-899f-41a2-b9d2-42c930c6a624 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a20ec6a-0a51-40de-8d65-8c6e362098c8 CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a24436a-ca63-468d-98a6-053651f01d1d CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65941ba3-ad42-4c96-b0ea-887c5f7aac05 CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57fd217-2ed9-4e94-9c22-0e45387b0cd1 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f80f8f3-aa5d-477f-ae9c-d97e4ce06616 CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17963c19-37d4-47b1-aa0d-1fe7b92e58c9 CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4390a5e7-9256-4624-abee-dfbbbf8a7342 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0cb5b1-bfe8-443c-a68f-82d9117e20be CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b07871e5-b5b9-4eee-8220-84cce2283cba CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7575cde6-d238-461d-9926-ce28bb008c45 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b85764c-2f70-4463-a026-7a18b52be8d0 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44697ac-aaca-4cc8-befc-2d8ee0405676 CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fc4dde9-23a1-4645-b231-9ef5f53893bf CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495cc20e-fdd8-451d-9fcf-2659f5080470 CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80aa43ba-c4e3-4fbd-a023-b1a7299ee48b CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fd57ec-c39b-4718-a0aa-d40fc6363461 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb2275a2-490a-4602-b587-18020437d13c CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4591599-a483-4167-a0a7-96f9dbc13605 CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2930c0aa-2954-4276-adb3-2b931d8ff0aa CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764182b1-8048-4978-bd99-42abefd97715 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d4a4ca8-e471-4f97-bb96-7c2e13b21236 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e7d1f8-60ee-4298-9be0-a4cd10b01f93 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 697dc8f2-1281-4050-b5d2-745230674691 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40203757-0d7d-4d54-bf59-60fe0912ffbc CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e442adec-184c-4bfd-b1d5-67c0d0ebebaa CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fdd51e5-8f10-46da-affb-51907adc4ef8 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99591600-2d4c-4ff2-8e01-706d3c7990bf CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7680c041-1bed-443d-aa53-7861783939f3 CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b40c04f-c254-4daf-aa9f-1d5b3d168edf CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe08bb9-db8a-45ab-a1c1-3d104bb8028c CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 588c428f-630e-43ce-920f-41298c760023 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7feb3418-a3c9-41df-86ea-d822a14bb551 CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d918a68-bde5-43d2-a122-24eccb023939 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1155a6-1020-445c-98a4-528f3613a454 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d27033b8-6b4c-4e7d-b827-49486fabc7d8 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d8c10c-71f7-4d8a-94aa-5aa7a35d8180 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03aec9f7-5571-4999-87dd-9dcebd02901e CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3851b962-bbad-46b1-baad-208677666ce8 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa9f5c91-f4da-4792-aa88-a176f377aa01 CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d39b040-1ccc-4ce4-aa49-25b7659334f8 CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e142a8f-b101-4112-9f31-fa5552823c80 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08a827d-64bf-4d43-a2b8-b251e1221ccc CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffdcb080-0753-425e-8529-342d3af79bb5 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff5900d-43df-49dd-a437-ef2af2c6e28e CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e263939-68a6-4054-ab8a-9242b3946d74 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71334a9e-75c4-4660-a346-ace07bffb339 CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bbd2f98-3ad8-43b8-807f-6de551062bdf CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bff119-5525-4a12-a443-2c5112df594a CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 457ab87c-4745-4116-b6de-81292aaa5d1e CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6730cd-46ae-45e0-9dd2-63ce28692c93 CLINVAR:1602756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b15cceb-b6d8-4eb2-812c-084af9ff010a CLINVAR:1602756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facfdafe-8261-40d0-bef2-8474fe8f931f CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b734340-0adc-4306-925b-cfb9e088d5ab CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65bd1671-25ba-4bb5-81c6-d7cc58e5a261 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccf303f5-f975-44bc-8df7-e9b19af86baf CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f9b9be-06d5-4928-94d7-89a29ddb59c0 CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 262c37bf-284c-4153-94b4-1a143f6d8dd7 CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0722547b-5ea4-40cc-b97d-744c1e89d8a8 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb31ae59-b052-413b-af32-4f38e9b4d1af CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893f178b-8fff-4fe8-9095-f09d9266469e CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf70b02e-bad5-4277-8ff6-8e4a4fcdee54 CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685a8517-17f2-47d6-bd48-392cbef0d711 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7835e3ca-5990-4f44-ba0f-13812bf6b970 CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1675872-29b9-477d-b81c-a03c2c804ba9 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3c9e44a-1d19-49d4-8a7f-c4916d893d71 CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f6a20e-6ab4-45d9-8621-eb2a4c427b5c CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f49ada21-cc53-41c4-8be0-48add9149401 CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa5e192-7984-46a1-b467-d1895b4796ed CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45ab82e1-388b-400b-ae74-bd4e1a2dc37f CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05031ca9-e3f9-410d-a86f-ecb91de7ba6c CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f2ae7bf-9035-4055-b7d6-8c491af1b6ed CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f40887-666d-4538-bd88-455379032c23 CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f07cc3a7-6827-4841-b29c-8ec4dbf52a46 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eee99c7-5fe2-477f-8a6a-f19ea18622cf CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233a9200-333d-422d-9bd0-eedde3ea8813 CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273c40ed-ae5f-4eae-9696-9755cb77a627 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f94ec570-f034-4108-aec3-186f198ec3fc CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a687b7aa-1815-4992-8b1a-71da53908932 CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7b7204c-9a1a-47ee-a82f-23fe5df7f1f3 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65821e08-689a-49af-ab3f-0bf4d3cb18a5 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be1d3de8-d7f5-4e4b-b96d-2f074b55b9a5 CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da18a8a9-3235-4b31-9d04-663458004768 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9b98e37-111e-45fc-ad4e-54d69636593d CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3b64a6-51f0-4d13-a969-d20d23a9572a CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fc3266e-10b0-48a5-90b5-63e1eae72248 CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fe09ee-5a68-4986-94ab-1bd0d7f3236a CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12f00e3f-5e3e-4eeb-93fc-a85516950170 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519d3721-5ae1-41b2-8f3f-2b332eb54d2b CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1747d45f-1883-483e-9865-72d26227e1d7 CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3117bb47-2cf3-433c-9948-5245a47c33a5 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49101c17-5f95-4826-b8ec-05c1d30d4e4a CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a59c238-a983-449b-84cb-e8eb88571e50 CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13fb83d0-8ef8-4d00-9391-07483064b899 CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78bbf0e-af03-4638-96df-9ce09c8efef3 CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a905cb9-0ee1-457b-9668-c3d665951437 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af0d2eb-3d23-459a-882e-86b6017455ba CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c64729bf-5651-413d-b408-5546bbac7200 CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db1f471-83ea-4a5c-8893-0620e5be6190 CLINVAR:3367215 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab24b6c9-8b0e-4c8a-912e-7ac33760e7cd CLINVAR:3367215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a8f8be-25e2-4d8c-bdc1-bcd77d759663 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c7ffa49-a32f-454e-ada8-9cd1c6e3d168 CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0841cd5a-413e-4727-8e12-d80483232602 CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb299fd-b0e0-4f7b-9e21-19f487a35aca CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7a3add-6811-48e8-8d5d-99f39a24e7f8 CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b738d4b-a948-40c1-9f89-ded21d942ee8 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f69c6d-b49d-40a3-9d40-ca6bdb29a59f CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d7b3bc6-b4c1-44e4-be57-ba15e51cfb36 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae16701-db4e-4aa9-88e4-ba66f177762f CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3965476-14ac-45f1-bc6f-502c8dfdfd18 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321dca8f-cf57-4307-b533-78742b4a2db9 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09eb9a02-e803-42b4-908f-807b5eed9e0f CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7765a7e0-7018-4338-bae0-59c0bf455958 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aa92437-87c7-4552-8a4f-f0487acaa8e0 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0df4d0-5931-4463-b0e1-ef13c651c746 CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 890ea938-33f4-492f-889f-19c5294996f8 CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f86159e-6673-4ed5-bf66-52b6d6fc76ce CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febc96ad-dbad-4b31-9090-be4593fa7aa3 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce069b2-1133-4de8-b26c-7c24a374d976 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54ceb22-e40a-4485-8d55-dbe87d561487 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226222f0-5462-47d7-a95a-979a25666a2a CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aeb7aa90-6e7d-41c3-96df-401fd9772f2a CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b51545d-b38c-4d24-a1ad-9c472dd1d27f CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0ed1af5-8e2d-4386-8ed5-79111f6f86b5 CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa33398d-93e5-43b6-99d6-62732b5fde05 CLINVAR:2814451 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a53b79c4-0dd4-4d26-a861-dcd2ce0dc180 CLINVAR:2814451 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9188baf9-afc9-465f-b5ba-edbadb440a67 CLINVAR:2879097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37ecd3d1-9433-46c0-aa52-9d513b76e2da CLINVAR:2879097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1908f6-2dc0-43f1-b11d-9d3588905bff CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eba50d7-ac49-4e66-9f56-84e983e27fed CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225e61b2-e876-49e1-89ab-8bb1f34f95d1 CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77e7927c-8bc2-4b1c-aefa-bba8fc345b4b CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7566e23-4086-4624-bfa4-1069acd2c27d CLINVAR:2751155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6883c9db-a1c3-4452-83f8-2361270b7c48 CLINVAR:2751155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700f974e-75bb-47ba-8744-da241a830cfa CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 248cfac9-4b53-45eb-bbf8-3da6d9bba7b3 CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81114787-2f56-440d-9273-7460118ffebd CLINVAR:2834488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eccda8a8-53d6-4f2d-9fe7-9c8ed86ffaf2 CLINVAR:2834488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db484814-2b81-40da-b54f-b8885ab29fd3 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8ad94e1-cd56-47ad-8927-d5ee2300b513 CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b7168a-b0d5-42af-8d46-f1afef519dd7 CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dccfd46b-7b35-4511-94d1-e2ba3dca7cac CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682e62d4-cfe2-4ae9-883e-ba74d44aca9f CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47cc50eb-ac02-4a79-a760-836a98e4c2e3 CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092ff8a0-0bd5-4064-b720-20a8fa56d5c4 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b1fd3c7-6536-43ee-8887-ac951e7daaf0 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc97bd4-5524-4ce1-8f12-a93e0c2c9825 CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07dc9259-f0f8-4c72-a873-ef698980a683 CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcccaf8e-e247-4316-8cca-143104ecc101 CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c4bd80f-c1db-4415-8847-c80160cf61cb CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 452fd6c9-c4ed-49c2-b5b5-d9fd335e0e8f CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ebaae5f-fe98-4986-b2f5-185ed819547d CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f492efa3-1c69-47cd-ba67-fe4c723b76b9 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f38ebe6-aaaa-4972-80dd-79d3e1a29e9f CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a4614a-f701-4261-8c7f-39ff4d7be416 CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be19fd4b-9267-4295-bf8c-b33eba5f3dfb CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d0995a-4211-44e3-bc44-988eed6e310c CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6919be96-a3f4-4d79-afea-2402e2d33388 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9935d6b5-439c-4726-b854-627c208601e5 CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75ff5f92-fb0f-466b-a8bb-bc51dc3e74d4 CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e336b2c-56ad-4410-aaf7-2341a0e60473 CLINVAR:1528554 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fb49228-75fe-4308-9da0-33f4cc31fb89 CLINVAR:1528554 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82539051-f0e6-480b-a183-cc28fce7b48c CLINVAR:1459284 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed24adf8-043c-4386-9a1a-1b8ce6dda505 CLINVAR:1459284 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8d1153-ce65-49b0-bf31-b49bfe94ac10 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb18bc80-501f-478c-89db-2ff69d38ab1f CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fc5e58-d1df-43ff-bcd6-b2c94f7b7868 CLINVAR:2013398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d3a84f1-50a5-4889-9df8-64e2303593d8 CLINVAR:2013398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81db37ec-2e9b-4c4b-8b57-f428708cc8c4 CLINVAR:1988566 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b12b4e5c-f50e-4986-83f6-0f5015a39b67 CLINVAR:1988566 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37805dd5-4eef-4d95-837c-98e242fbe6f2 CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77778327-e06c-401e-8415-8e83b430120d CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a825d1a3-5687-47cb-a234-42c89ba7dbb4 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60ca8608-69bb-46f1-bf1e-24aa85ccf71a CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e444fb84-dbaa-461c-90c6-8b3cee99d070 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 517f47af-9487-48df-9413-db29e1c68f58 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 931da7d1-ea46-4896-9b36-3d2c94f307fd CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 544cc6fa-83fa-4520-8768-1c4dc3542bc5 CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f79cc2-83d2-49fd-8daa-e6ffa90dcfc9 CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0711a01d-e723-46ab-b92b-efd9e7c58f4e CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7923fb-c287-46e7-af9d-6034ce55e81d CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76549f89-8630-49f2-85cf-f3690d890a7c CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2072c341-5d35-4155-bf86-fd5896ba6652 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5002cf36-6d12-4ea0-b87b-d5d70a9e8b31 CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a157fc-c597-4d23-bac6-0862f93c46a6 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fc16679-95c8-496b-931f-68b9c58a5390 CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78916089-eafa-4af8-9a98-687864fa5b3b CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af10c378-1cfe-44b2-bbe7-3e1ea158671e CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129df58d-1f62-4a90-837b-f8cd0ca91c27 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c504290e-265d-40bd-81a2-adcefd7c4715 CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1ed38e-23f9-425b-b342-18e0c57482cf CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89fcec03-7cce-49f4-a2b7-a297e5941b7a CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d3273e-9a85-4da2-917e-6aae3517643e CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64860044-0c6f-49c5-93b8-b482c8059175 CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6d5072-b1e2-4080-9b7c-6f8ad5d09872 CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af95f835-c32b-4c97-823d-8a7f2a69c8a6 CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c91c5226-d630-4d73-986b-575b03be2a0a CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93f57a39-fb2b-4c16-9ac0-19a74e73414f CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf75188-f3d7-4014-9c70-85f0f107245a CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94ef9873-08cd-4968-adc1-934d6c52dbcc CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167e2713-643f-46dc-822d-82fe83cd0c11 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8aa0914-8dca-4ea8-93aa-647e31f43a43 CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c98ab577-ad0d-41bd-8eff-2a03500f4483 CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e6d1163-5b73-4fe4-8f29-ac86283784da CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9cb37e-2213-4962-ad21-0cf458c5e9ed CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42315fea-6690-4453-a479-38c159fea726 CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3bf8d8-9c9b-4d84-99fc-9338d9fb7ad8 CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a90cb964-390f-44f5-9b08-b5d11591462a CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52f305f-e45a-4ccd-bfcd-22ab404bacf2 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c91d83fc-7c42-4e45-b0d3-00c0d555b85b CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f3404b-6842-4ab2-8aec-b03216520175 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0defb547-0b72-4f54-9077-4e6a04afd4dd CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910d671c-b164-42ce-bd64-93bc0c56c8d7 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1f73a83-d3d3-47d9-a992-047815cd98c5 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01a9748-2e8c-48d3-8d52-ab0bf4f386b5 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37ebbb95-6a62-43e2-b050-c59e6e4fb8eb CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a0d349-5abd-41e1-99cc-c0da911bbb9f CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40c07d4b-dc8e-40b1-874e-cda52f610092 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176d66f6-a2e2-48ca-994f-e82a48e25883 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ef4e0af-df43-4a1d-a40f-ee170deab12e CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db272aa-cf7b-44e5-ad2d-af12eb3b495c CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 687d42ca-f7d5-4ef3-8b37-fb536cea6d2d CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b417d41b-dab8-471a-a806-179e0c4f44d6 CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84c63edd-f440-4dd4-b613-2405368ae837 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c185d057-95b8-4d76-9fcf-9967ed8bead6 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 243d43c7-56ae-4dfe-b557-33330a28b8a6 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236ae916-d671-4c60-b8c7-66ddedfd3f01 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f45d3e-1947-467f-918a-986ebff19825 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b833e248-d8dc-4d07-994b-77ac4bb50222 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbfae9f9-e09c-495e-8e15-a92897ec3666 CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbdeaa6-01a2-4284-80d1-c9210c8cd667 CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8475e441-dba0-4a45-bd9e-e35423c4d41d CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cce1a5-99b6-47ea-b54b-23381eaaf7f8 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 912edc2c-35e4-47e7-a556-43ce76418cab CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7786b5a-1522-475b-b302-9d4923f0cd93 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d88d8b51-793a-4c5f-a78d-3237fbd86f9d CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0efbf35-eb20-40e2-8409-916391340f53 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbc90a3a-ad12-4d00-83b0-2e36d9cf8cab CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f530d0-5813-4e46-b3d0-345456ca4d85 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4915c5dd-4109-498c-be05-6cd6f27aafe1 CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2695d807-fab5-485e-b546-22c08435f1e3 CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cde5ef0-283f-4946-9fba-149952ec4985 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222a5638-d06f-47eb-885d-81f44ba9a662 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 854d4016-3266-49bd-a5ea-08a04c021a8f CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18df89a0-d78c-4d3f-93bf-c5df2bf3eb69 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 190d8dc0-660d-4e24-850e-c4cda5e114ff CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac51fd3-dc6e-40b4-b3b9-9614b1c63728 CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 535fad69-061a-435d-b0ae-a8c4f95feb80 CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2d41d0-9c61-4d6e-b932-5ff84f001106 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582ec34e-faa8-431a-b6e0-f6659fcf1915 CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872cdf26-ddaa-43b5-9152-d52b9f483404 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fd6af0d-1cb7-4acc-ae22-ea3568ed4000 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136df60e-4008-4c42-95c0-9efaa1c6c093 CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfc96c8a-8fd5-43b1-a346-35363098392a CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7157246-0538-4ea8-8c01-e507bafe4089 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17798024-6c47-4be0-a095-518276d1fca0 CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e630c64-bfcd-4eda-9e08-b5ccbc35b150 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb8103fb-ff28-409c-a241-c32f35d715ae CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b135d38-b709-47e8-b584-6607ee25e6f6 CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b08e8105-9649-4a23-b3bf-7bb414027063 CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d94f1d-5ad8-4837-8326-dac2efb81764 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9205a960-96ca-4e63-8516-42fa6f7135e5 CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11901dd-1e16-4b90-9c63-775f45a2476d CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce381c2d-9411-4258-9491-738f009625bf CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81907775-db20-4c44-989a-cf779c2f75c4 CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e5e8085-03d2-40bf-977d-ec66669e9ef7 CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd73c8b-d573-4df1-a8aa-d71b6bf9d2a7 CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e9282fd-63c6-4610-8038-3f3f8a53e16c CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516db874-336b-478f-b4c4-81ea1d4001e0 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a07e3ab2-2fd6-4d44-bb93-2820a38883a9 CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e134f1-1014-4b3e-b0f2-edf02bbc49e6 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52646466-9491-4ea3-ac5f-e10fc0e368d0 CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb707c8-d982-433f-93d0-26ea108ccd6f CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f01ff54-5bad-4152-a8df-54b5dc021492 CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7b69b0-32a3-4f4b-a25e-a0107bf54aae CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1b7a65a-3f9d-4319-a485-2646a1ee04a0 CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914939f7-2318-41e5-b7a7-e42c8f005d21 CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ea4daa7-181a-4751-bb63-9e099d4367ef CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4276b27e-7a4b-4d32-b725-2be0c866c11a CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0b757b8-96f6-4d50-a170-60b4f08504a8 CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5875f120-1392-4570-b77b-04a601f15bbb CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9c7426d-c435-46e2-9218-f64f340f06c7 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7663747f-a76e-42b1-9be4-8429a8db963c CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eebc52e-198f-4be8-b920-4224c3d883e9 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a779dd2-399a-4890-97c8-26299e0591ea CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3524210-2058-4c7d-9b1c-fc59410dc0f4 CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21c8011-cf49-4a98-bcfc-5f01d0f5487a CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0895044-83c0-4543-997b-988140c61f57 CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd85a37-8584-4355-9bba-4538709a4688 CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00b6dbb1-32c0-499b-a3c8-e4ac50c7b5d4 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27978fe3-c002-449e-9e93-29d59a85c0a2 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da8611ee-ceec-4cbe-936b-d620c2bda584 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e05c8b5-3420-4182-b6a8-e56b5c3e2d1e CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acebc14f-f99e-4191-9c8a-11161f5e60ec CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df074a0-f2b5-4141-927b-95867195379d CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccc31ab5-2861-4899-a1ec-3235f8e8d2d5 CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560c7f32-2810-4e66-92be-12d03162047b CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bef75925-11dc-4283-be00-6006a8d1b8a9 CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea60d67-d618-4a49-9a70-50de394bd448 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 003f5259-432e-4b8e-b53b-cf8864f51285 CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadfdcc1-f54b-4bc0-8d1a-946900b852ce CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cee4f18-5f7a-4288-b6a0-f85008772487 CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6082b1b3-ce4d-451b-b91a-0b89b595cf15 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54dac2ce-b4b3-48c1-8f08-48bc3a118261 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7b51aa-c844-424c-a243-09357afa1d81 CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdee749e-129f-42e4-afd9-5aa51202f6d1 CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97c1e03-d82a-4d37-8d2c-14c2b4562302 CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68888b21-356b-4df3-9a92-0eff179c7ef5 CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2895259f-9df6-476b-8f03-2f3a8dcd5c17 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c5865b2-fc3b-4e10-8aac-8f40115632f9 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf137859-9d87-4225-8f49-c1106dd240b1 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7b015c7-35cf-4fb8-8cb9-f2fe96f6a5ee CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5aa175-f62a-4ec8-b07e-019e96966bb2 CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1659596-5d74-4243-ba23-fdde12149ab2 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8dc8af-bb82-4ace-a5c1-752ed0c25dc9 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2dcafede-7108-4f11-9032-701a4e3cf1fb CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3d4358-d76d-45cd-ae6c-24ab931fa190 CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4c1d13c-6794-4fa4-948e-ed78071756cb CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38ca1c6-9fef-42ee-a69a-902ad0b2faf0 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db4a97af-4cf4-4ff0-93e9-df5542cf627a CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b181db56-3473-4557-b670-bb601eab4bda CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc2f1662-8be6-4b77-b4c7-7059104579a3 CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91fe673-1f8f-4fd5-acf7-3b8e7790ddac CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5a6f83a-2417-4431-bdb1-420ce7880b29 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3ded2e-bf1b-4f1f-a7cd-3055c6f8bd74 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a36e322-13f0-41f5-8315-9c0e62d6d558 CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8bafb8-31a0-4b2a-ab5f-40461f466b18 CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96079a8e-7b53-46d1-b8c3-601ea6e4bd11 CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4455cd-c850-47da-abf1-f87880518568 CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f6b3edd-bb7b-497f-a5fd-dfd9a3794c19 CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747ebe21-598d-448e-addc-4ca61539fcf7 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7d7e8c1-22d8-46c0-80d4-6d258fb4cd87 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a960fa08-f448-40f3-ad6f-f852b68a087c CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f688640-9c7d-4fdd-b4ab-f8a0e9adb864 CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4cb6d2-3d62-489d-8622-b496c8c5b3bc CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a28985e-7924-4c29-b4b9-0771e4807bb9 CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f45b211-f435-49f4-b6bf-17aaaa65e8ab CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9301c405-6e43-4d78-9f21-234427df3df7 CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d7e9db-b427-485f-9b4e-981e293bdafb CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c933e9a5-8e88-4a1f-a1e8-28bd2a9fd9de CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d46db0-06b8-4b0e-97cf-9a72297a7d30 CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c78b7e3-9bca-40b0-9376-cbd2b2925373 CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4195242-1bbf-4297-96ea-af3d33056621 CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66820874-c103-4d1e-8e28-7931e4d0066b CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c1fb63-31d1-47e4-b05c-980312eb895b CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95e2f997-e056-44ce-aeb7-8560fe60ff9c CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996bf4e1-8ab1-4be7-a3d0-cef059bac22f CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9ddf3e5-2738-4f3a-9d07-898c1b106844 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 824c6173-face-4370-8be4-82c57156752f CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e217dfb0-9aa2-4936-8a57-92c515952b2b CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e99cfbf7-a0f8-446c-b9ac-6392808f1c54 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f432cda9-7387-450a-8c61-69104ae58afa CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979fef41-86b7-45e1-92b3-67431d14202a CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66e16a08-c1a4-40d9-ae00-b02f29b34a94 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f1f72d-d63e-40e0-bf35-2a192cbe83c6 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25f3596f-a475-42fb-aed8-2de9eb72c569 CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33c61ce-8910-468b-9320-377775e4d702 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7729de72-e2b9-491e-a585-78a276d61a5c CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b494f26-ec07-404c-aaee-09ab82009358 CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb8a4d09-1c2c-401e-95b8-eb2e0f091faf CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773744e5-bd9c-4db8-b90a-b459ea0ca173 CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78d9df7e-422e-4b92-b68f-e1487c81848b CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1eccf3b-f68c-4932-84b8-0081b73ecd3b CLINVAR:425863 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 234ac72a-4c4b-4735-a59c-861871df2682 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc66786a-c97f-4e81-9000-42943f256b9d CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 827f374b-10a8-4d34-8ace-bb234e24b485 CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595df505-0b03-4c07-96ab-f80579b469d9 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cca7706e-7f3e-4ea4-a130-f268459e1b73 CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87146d1b-79a6-4112-823b-dcf21c79dce5 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24528ade-7079-4c18-b441-81863145ad0d CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3534f61c-023c-4a69-a619-5f6005b2e282 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03564dfc-0ba3-46cd-9d75-132e8a238c00 CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22558600-4b2b-4e65-baf5-057c1ab2e4b1 CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d27037d6-ea5e-46b8-8eeb-726ebf7018f0 CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e07c28-ac67-459d-8558-0281d4b1f9e1 CLINVAR:425888 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae5c2a56-91e0-44db-ad74-bf4a78ad166d CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e220223-8d9b-4b55-b10e-2f2cbf89b12a CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a8b4b19-d015-43f6-b53a-0f72313dfa06 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baad038f-3f57-4459-ac7f-9d841995c998 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a00e68ae-58c9-4b4a-8b95-6682f4dd39f1 CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7655b4-737f-47e9-bb74-06157f19a69a CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 173af93e-ace3-4a76-9344-51efd075bb52 CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c6f972-2bf1-42e0-b7c5-0d0003d5cb89 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6835c0c9-e9f1-44e4-a954-c84561516e49 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8e9061-1c83-4ced-ac5f-10a2b6ca348f CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5144dcc0-f62b-4735-8b67-e12fd136c55a CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0ca98ea-84ca-403c-ae4c-b48ec611ff67 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a01856b6-30e2-43a3-871a-6bdb0136c3cf CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d651034-624b-4dd9-b294-2535da60872f CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9451b857-2c5e-4e45-b0c1-a0a8e478e4d9 CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecbf52f-9ae4-4bcc-8649-fa0106300e16 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1696877b-92cf-44ed-bd0b-567f6de04b56 CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785cc21f-1484-4397-b299-03e76a89f858 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff54ae2-db3b-43d1-b98c-06f6c944d078 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7f1ec8-3f12-46b0-811b-43bac10557b9 CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b072e928-1c6d-45b7-9c16-7e2692f97a3b CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428b8b0b-6aa0-4585-a78f-70297f8bfd52 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54dc0ade-d50e-4e29-b73b-30146af9973c CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd1cbe5-cbaa-4fe1-be2b-ce8e1d2bb57e CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f151e963-7cf3-4cb3-a992-edf9f9b37500 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ec55ab-3b52-4a43-8904-af2aeed23328 CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14524190-0866-4bf0-8d40-5fc53bde4620 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6eed4c4-ff92-4f12-8e06-b0ffb8f5a8f1 CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f2d28a0-cc2b-449a-a547-5e1b512c8ecc CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 509cfaa1-299e-44fc-a42f-4ec9d3e1ab72 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f653c1e-3d7a-42f9-8bf8-d6391a47cb44 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a19be7-4d0f-4335-9e2c-94e4e01debf1 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 193ad663-87b9-420e-b310-5f6fc281bfaf CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0b4803-02d8-43c7-80df-a046ebc32793 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55fbcbbc-ae84-490b-abb1-6fe6db583f5a CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe97a6df-3dc7-4964-80f8-f931538f9ef0 CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d264efd2-dea7-46eb-9cd9-f38d1c7f6225 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17956e2d-fb9b-40c6-92f1-27ba42982c6f CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e1022fb-f93e-4afc-81a7-7b0e46dea66a CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1b5c48-a4ec-481d-88dc-04974d1b6532 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eacb8f77-4add-43fa-8a0c-9808bc82911d CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d80d36a-f4b4-4980-b0d9-767baea3a1d4 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19acbfc4-989c-44f9-9dee-5cc288c317d7 CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ca032d-6b2c-4eb2-bbb5-5ac1cf9f9da0 CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bbfdf11-d813-4e98-8fa5-95bead809ee0 CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6cbb34-25a2-4dec-a769-2e5346bf5f69 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5a1de4c-a6c7-46f1-9af0-0ea138645d72 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950fbb41-b017-4b39-a7a3-6d816544d57b CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de28298-6a83-43cb-b19a-1171fafb1a87 CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ba1ed2-dd1e-426c-8567-46bb183743ac CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0446fef-8b55-48a5-87da-6037dcbae2d1 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38c4c9f-d0e8-4324-b162-1bec5cbd10ad CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5b462f6-411d-41c5-9389-b395fa1c685f CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3c8639-abb7-40b2-97d4-4df429522602 CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cac75bb9-3330-4d49-8157-c53fc0dfd39b CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875beda8-f0e8-49c7-8b67-863a004beba8 CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deeaf8e8-2640-4bb7-9049-f7c60800e4a4 CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b60f1df-6584-4303-b303-a693f29d4396 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 313863e4-229d-40ee-8285-66b5a8ddfae9 CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84c22e2-18a3-43c9-8f1c-eb98c5c7704e CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf784045-510e-4d46-a2e1-a33926fadbba CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84377a1f-5777-4e77-87a0-fdfad9bcebe3 CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fb59b49-67ff-4f25-9c82-434cb80c38a7 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 816cc6fe-e4f2-40ef-83e0-4fe48533084d CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc42073a-995d-4f5a-83f9-ffa2d2223ac5 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3b96a6-700c-4744-afaf-72e2f78efdb4 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fbbc4e3-f28d-4b13-b3c7-a23f0784c500 CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6b87591-a07d-454c-9a97-a845a9e50498 CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cf6dc48-8fd9-4b63-8325-16a86e1f2892 CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd02faf-460d-42e9-9311-a0dbce94e55f CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac694fd-146f-47b9-ac2d-d430343332aa CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08fdbaf-d1cb-45cf-86e9-a90ad8a7e3ef CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27be35d7-7f73-495c-b72d-7f024d063f02 CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae2bef2-cd25-4771-9fad-bc1dfe5ba931 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dda7e0d7-a7d4-46e6-9a80-feae83042772 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501b0343-34f8-440d-9641-b88174b0d2c8 CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb3919d-8200-41ff-864f-94972f60001f CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f3e7d8-b56c-44ab-9cd6-a990816c4e33 CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ce091d4-d21b-4251-8592-55dcbab397f8 CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e0311b-8e46-467c-bdbc-be4ad704432d CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5bc7d7-8b43-44eb-8dc1-9753a04febb5 CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ffa842-ab96-4fda-a63b-80f4208104d8 CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a399930c-1088-43a5-bc5c-b33985602136 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a6a7b4-5045-4041-8ec3-1648d55d6b4f CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57a53742-1be8-480f-93d1-8338b792773b CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8461e086-2452-4ddb-8d0b-31afc35a5c7e CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9489ad6-0501-4e9c-9d37-e5de4922ae60 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fdedba-b506-4edb-bcab-64fa783a655c CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b2fd74e-fc48-4050-937e-1ddb50a438b5 CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af483b8b-7ee4-4056-b67f-2d1ba667f2fe CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e713a8e-d744-4cef-9242-51a53d661e80 CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9448bd46-b22b-43a6-acc9-37323c3129fc CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b9ca426-b088-413b-aa76-9c7ccb81912f CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3883571-6ed3-47ad-8210-4b097669aed9 CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa3dc1cc-5a1e-4052-b1e1-d1425e9059f0 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5960f48e-91ae-4d9c-b4c9-d6ffd862f87c CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2413e336-171d-4f1d-b7dc-fb7e5d21814d CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e6c0a1-8931-425c-ac75-cd362024b699 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a26b39f-3d6a-4884-b2c4-9b72cba95224 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f850c2-bc51-4d1a-a3f0-c15d3ba12a88 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6c786a9-c7bd-4b96-ad76-de3a2875c839 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f27330d-aba6-47a3-a5f9-6626da473a79 CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4137dc62-7f2c-4b7b-a7ff-38f8ba3302b8 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92592744-744e-4a9d-9b12-0feab79829ab CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5716e30b-1f65-4b84-b55b-4101cf7d33d3 CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f9a26c-2337-451e-8f31-56804934565c CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14485623-f283-4031-bf6e-cdb17cc7e147 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747f6a8d-119f-4ee7-a621-01e05c985644 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2460b40-e5e4-43b1-a7c3-8286eb604fa6 CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5faadd-7d9f-4f35-803e-168492109aa5 CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2ba3108-c3a4-43d2-b3a3-9c6bacc527d0 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91157c1c-574c-4477-8ab9-685ce5dd8bfa CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 143412a8-c35c-4b45-aa1e-7f787cd789be CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3ef0fe-11e4-49c3-b78c-ef1b388b080f CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b56c727-ca10-4f84-8cb4-d96303a6cc79 CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af4f028-3386-466e-81cd-40696c251358 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6c63581-3224-4ebb-b20f-74e8ffbc20bf CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65782ec-b3c6-4ef8-bcc6-646ce0c880aa CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c167788-29e4-4f70-9a46-e2b173b57fd5 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cde39c-0f20-46af-9700-469b13a479f8 CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efd5423f-545f-48ee-a8f4-22a36db92c89 CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44b8885-86d3-4084-baec-53a4df112022 CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4382ae92-73b8-4060-b8a0-dcc5cad7feac CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a3456f-c611-4b7f-978f-615b9c6a7bf8 CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26a0f515-5b52-487c-8239-6411a295154f CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef20870-7254-4862-a393-68423caffbf4 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fabc6db-d575-4ad3-910a-46ee1480ebf1 CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c94851b-b563-46df-9849-160c34b5bd19 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9e6b4b3-fc19-4d91-b820-55067722b5b9 CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb25cfc1-dc57-4cf0-8ff1-8417a923ef24 CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00cdf110-9e04-4ee0-a5f5-4e8deb036e73 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2b8278-de93-4e43-b56d-65a0e257a91c CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e5472bc-651f-47f1-8539-2e41734d690e CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b079695-009f-4711-ae51-25987e88e3a0 CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c049faa-975b-4ee5-8d86-b4682e030e3e CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61eb5dac-02c9-4769-aa8c-852c1c14f647 CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 763c28a6-f68e-414a-bfef-ee2cb250d679 CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d2d10c-fffc-4c9e-9138-1718750b1873 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 126b144b-dfd3-4cd4-b85e-6093f2ddfa9b CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d0d615-00a3-4432-be49-5b28a933cc66 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aeada67-1bf5-461d-b3e8-b0908e5c507b CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e80e58c-3b59-438a-898c-72fb566b96a8 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27d083e5-72ff-470e-9ffc-1551d30c8143 CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd372704-fefa-480d-a439-2a4e5f632827 CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40eb79bc-1074-41c4-89c9-910f8d955d46 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fce7a02-43c9-473d-9a66-59b319b30eb6 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dfa0e19-fd95-4b55-8516-95f19aab459f CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab9b5ff-4ef3-4c02-83b6-971f3dbce8dc CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25387f81-cdb8-44c2-b5a6-22421ed4f16c CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1167e43-c6ea-42f5-9271-cf4b7ded5dba CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4da466c-dca5-44cb-afbd-428a2c82bd58 CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fc2364-bb73-4f2a-b36c-2803256c9a3e CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31af22f-eb0e-452b-bfc5-93f3eb462082 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9a86cef-5fe8-4354-a720-93a0fc893759 CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5825daa-2be0-4fe7-bea9-eb51752ca38a CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2994873f-bcf1-40c2-b49f-498591b4c5df CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f4aeac-a3c7-4e79-983c-50aed7c412d7 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f49ee3-cd25-41c3-870c-9691b71db91d CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da18ed32-5a41-4bd6-88e7-7eb74277fb96 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25730222-ab93-4fa2-8443-ca97b5b5b22f CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867a7082-4279-4788-8765-4f106961bb9d CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7c65cd8-d67f-4e3c-82c0-b1a911316d80 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d47cf3-a7e9-46fe-ac83-55f2f0765ed3 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57961bc7-716a-4d41-8868-7468f3e2d7e4 CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07a72c0-5e2c-44c4-9387-bce1465dc7d5 CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60f03a9b-8d0c-4dcf-8528-580c1b60f3ec CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba602cd6-08f9-4331-b66b-a84890b41f7a CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c69625aa-e59e-4d2b-83c9-8657832e181d CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631a5d0f-9647-40eb-a2cc-364eb165fedd CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c06e2fc-40c2-4d08-8e0b-78650c7b8464 CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb39d30-6f76-48db-82aa-9630d52910a6 CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 442ef838-be82-464d-9dce-309ba578f259 CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ad6094-af19-48e6-aafb-5b4e588505b0 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc24e47a-cafa-4cef-97c3-133522655d0b CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230b4a6d-d885-4bbe-9b06-6c7d55e73126 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a18ea241-e5a9-4cb5-9dfb-36c644bbcd14 CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e25b35b-d6b1-45f3-9a35-ff7f1b7183a1 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53c478b6-b005-4bb6-9d1a-e201dc17c73a CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9ea237-386f-4bc9-967f-83c3deaf4491 CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44c4d7b8-7207-4110-91ab-43ecf1713190 CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8950a499-4943-4a4d-9281-2ea828a048a4 CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52db6aeb-3f33-41b8-9a60-dc51f56b10d1 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93d2603-5376-4112-aa25-47c9a8496e63 CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2173ddf-27c4-4105-b224-bdc6c4e58b0a CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eeb4751-f011-4765-b2a6-3dc8176ae8e1 CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68eed84c-b7b5-4fcd-ab63-11443287fdbf CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97ad262-f0b8-4415-abcd-c30bccc98195 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1298f4c8-3c41-4fec-8a40-9ee6fcd421db CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28adda0d-06ab-4fd3-9625-1a474506791c CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be34cb1b-d894-4435-a174-b6d3c0765e21 CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec90162-afbf-468c-8971-57adc8161c8a CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e780043-fce5-4f4f-93db-6820e720f35c CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afda7a71-489f-48d1-a9eb-85c24c7dabde CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca8772cd-78cc-40b6-9fcd-39e19aa81cda CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c227eed6-d5db-4713-86c9-9482711addf3 CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa66873d-9451-4f17-bd32-794adf92ac66 CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d576328-bcd4-4a0a-b59b-0502ef5b18cb CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fb763a0-be2c-4740-a6d1-ecace2d39b74 CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575a1344-4e2e-4141-b657-6b0884ae48ce CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6224a071-1b69-4896-af14-280996aeb4be CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895798d5-ed4e-4f70-b2b7-4d8e2623facf CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea9bc05b-6b7f-4945-8070-7c314f88d595 CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7d391f-99c5-4837-87d0-70f6146f4887 CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fdc9991-548b-4db2-979e-c7cdfb1fa419 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84379c3-fb95-46a5-aedd-fcbfb427cb92 CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6da70ed7-eeda-47d2-b35b-c77a210e99fe CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b964db-ad09-4b97-ba82-04805638d6fb CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80b2d0d5-f5f6-4a83-9831-9e2b03f90945 CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c6d482c-d13b-4f46-b85b-57ab46a46a39 CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 835f85da-5a03-4dd8-8c98-415eba2f5b06 CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530dd499-edb4-48f6-af5f-f814bf8a6252 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 484e700b-b02b-4334-8631-e87b205f549e CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ede611c-5ed7-4d8b-a92d-b91a3377371b CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 648e6681-165b-42d6-ae20-40920705ba6d CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9515fa7a-8317-4d6c-acd5-7a031470c811 CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae1bd523-f55f-46d8-a24f-7dd929b1b9b7 CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5ef41d-be48-478f-83dd-d02af7cbf5c1 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6288e304-7f00-4d12-a70c-e7671fb7ae6b CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f368bc8-2684-4328-b6ba-184cd6ea02cf CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c095fc70-2f3d-410a-b7d3-33ff3e6dbe6a CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ada42c-b723-4d2a-9afe-61621d45b695 CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30977a12-d4a5-4aee-bbb7-6f27d2c9bb25 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c3661e-4d75-4251-a16b-8db15b37f3f7 CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1e96359-b321-4483-8483-b2264bb50c0d CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73415fa-f743-4f2b-8235-e57e831fea4c CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5e1f4cf-f8ad-4b5c-a15b-ffbf5dff11d2 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49d0d3a-6c8e-4a7f-922c-e68f1996ac63 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41fc61a8-386c-4439-8a2e-aa8068c90a41 CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e189ee6-2133-4f03-8930-42801cd915b7 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d42d671-d3cc-4e93-9127-466eda474bbf CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13eb4f06-c2ec-426e-885b-f612fa633076 CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d56491e-9041-4ade-b1f5-f2a08666eacc CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b56b5b4-cd9f-48b3-b6b3-f4cf61ea660a CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae23d09-54d0-46ce-9d55-5728cd0ac0a8 CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca390b06-c8e0-44f7-adfe-f835542dbb1c CLINVAR:1051987 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2020b281-700b-417a-b7ef-0b3270cbcf31 CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd72eaaa-bbd9-4eaf-ba8f-8ad24aedd0ae CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1249a711-e502-4c4d-be0c-56207a8f0c68 CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44c4578-0eed-476c-baa1-e3ba21b4ca77 CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae489eac-7fc8-4b90-81e0-8ca20079c5b3 CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aebb635-3ddb-4954-8744-464440f9feb2 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b70f3565-0517-4958-83e9-e7ad52e2a009 CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d1ff75-9fc3-48c3-9665-f6454a979beb CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 482bfe21-88c7-409f-9e94-25ba97d3aa2b CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2146b1-d4c5-40e7-bfdb-358072133211 CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b31cad4c-69ca-4a5d-8d86-d4ce6ed26cb9 CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441a0921-92c3-4a65-baf0-875686dc0c06 CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10dbc109-cfbc-4441-9f6e-812b7d2d6de4 CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d2081a-8b03-4dfb-b4c5-9d245a74e47c CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7695518-235f-4c87-a3bc-64d4714f3b38 CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56e4242-c1dc-42ec-b9fd-574d7ebeedf5 CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76ad2636-a657-4449-b112-835df8dac28f CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a185634f-4ea0-42cc-9e14-332ea142eb33 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6de15615-cef9-432d-aaf3-32e823437e14 CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2527ec38-eec4-4fc9-bafc-f74954f0e2f8 CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b44214e-fd49-4641-a8fe-614ee20a91fc CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9cd70ba-d847-4d78-86b8-9c159836b35b CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12d29e34-3aff-4e04-8ad0-d9d9040d7673 CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504b6bfa-106d-4038-812c-cd0f480f84b2 CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c29a995a-d1bc-4e52-a751-91889dc890dc CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d956f6a0-11b0-42e9-ad2c-d2da965acbd0 CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8910b2f4-7c15-4d57-b7cd-a522182ed83d CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626565b0-52ff-4a28-9d15-e1166daea75c CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a399b4d8-8b23-44c7-a34b-628b79bb198f CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b68ec47-caa6-40fa-a5b5-cbb96cac4ce1 CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95b52a55-1546-4f24-ab2d-c8c5014d4e32 CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc647934-d22d-4152-8a59-3bc81e9a2918 CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff3edb79-773b-487f-8af3-7f7d400f1b8d CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6be3a1-19bb-439a-972b-2e3692af2e42 CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89918914-5cb5-4403-84de-4ee87ec9bc63 CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edde7c0-8753-4991-b01a-aa6ed90d808d CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b32381e8-aeb6-457a-9fc3-ded61936ab42 CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34554556-0a83-4afc-bde2-f81309ca42d6 CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca08ad8d-17a0-4af6-aa6c-5bd13cded1c4 CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ebc0fb-cd33-4528-8a41-6208795c822b CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 703d84dc-56e0-4fa6-bab3-2a6cc60bb760 CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ddb51d-dcb9-4956-9d2e-1d1d6d204b47 CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3334f09-dbac-4676-b947-868a05f01cff CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af40a72-d05d-420e-9db4-437d1cf1030e CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffd56b76-c9be-4629-a778-2077b8567c77 CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297d19f5-b847-4db3-87ff-2f9605122432 CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen becb7db1-bcda-4f9b-ac52-c886fe3f6d6a CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ce063a-2209-4908-8209-c8022b36c638 CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 600c4cee-b2b5-4ba2-a7dd-cbcb56544440 CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b938193-2b21-4fe6-a69d-7ba5725a9d6c CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9feacdb-78c7-4dc1-bea6-4da98e2d2bc5 CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44c034d-4b98-4f46-a9c3-ed075838f067 CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef11ad7-6e2d-4533-a919-2521c4f44d4e CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddcc3cac-3fc6-4cc8-a32a-c42660fabafb CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ce7905e-0560-42e6-813f-c7ffe6f0d1ab CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6ff281-f039-42c9-8332-768eb9f9cf50 CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb6c7b6-2c9f-45e2-8e3a-54ccba454516 CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc67514c-7195-4290-b695-a7cb834edb0f CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9399b974-0947-4fb5-8c23-c786d1e230f9 CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd5d74b-3496-4c80-b08d-1eb01c8be80b CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88e3390a-09dc-44db-902a-52d032d0b46e CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c35e32-ad56-467d-af4e-323dc9dedb54 CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fd18621-55a9-4c42-be5b-95e2e852b7a9 CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5439a39-708b-41fa-8517-e5d6fc38ca76 CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb9c68c-7e86-47b6-9706-0d95ae41b456 CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e398f312-1af9-4921-8436-c0c54c20efbd CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e8a0b37-dd12-4802-a8da-e07de959fa27 CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e55842b8-9911-4df2-9dab-c050807f6f6d CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ecd19c9-5db5-4894-8615-f6e8af5cd354 CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8b957f-86f7-4a3e-90cc-a6bdb4d51b7d CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2a8ea48-a411-4d5a-a362-651e1d0556ab CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc521924-cc16-485d-8e8a-c9db97c1c0cc CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72919054-8d27-400e-8cb4-f080766cf9a9 CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8f0487-f9cb-4d94-adbc-5e9814e4e192 CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d90c74b3-5d34-4c70-87c8-115bdb41aed8 CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c56fd3-7cf6-4a1d-969b-03f19c1d9a31 CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b593934-1bd6-42a5-b973-df15432248f4 CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed272ab3-83be-4b17-a994-244fc66f20e8 CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 358fd5bc-d988-447f-82a9-4d1b49944923 CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eb7272-3611-479c-80ff-5cb102519ba9 CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 019eca9e-0476-4723-96b3-d2acb374f0a9 CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339baacd-246f-4b70-a252-da915f5d0927 CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 214d5745-dc86-489d-97b3-65fdc4fd23ea CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447302f0-da9a-48dd-b439-f30f65d733d7 CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 828fd1f4-2e64-4cfe-ac90-675e2afc17e5 CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3318f1-1d1f-49e5-b691-39c843956fd2 CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94a167b6-1275-4fe7-bac2-b5f8c6c9f3cd CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e0b814-9ea6-4d4e-9f48-caca19fc93cd CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e41fca3b-da04-48bc-9488-29cdf222cbff CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc6f6e8-dba6-44db-8ff8-1acfa9f545cf CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5af5d59-a391-49e2-92ca-4231f0c80f6e CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10add4a2-f070-40f8-92ff-1edfab677cb1 CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5872e27-f6b0-41be-b747-7d5b89043e0e CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13312461-e1d7-42fe-8395-1f3553c62fd8 CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6305efc-5fa4-49d0-9ca0-e440469115ca CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e60fdf-a661-4ff1-a767-58e328b2cfb0 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4623926-d79b-4eaa-93be-570305e2d02b CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 568c71b3-1a7e-40ea-b300-42888f0dc6f7 CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9f0abfc-18e2-4f00-99a5-a17248539d3b CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db51cd7-c5f2-4f51-8559-6f6ef1c73836 CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 603eb012-34b2-456c-8d85-7fc81884b6fe CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed0d1a7-5f66-41ea-9580-0b4977a64f35 CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 315bee61-7804-430e-938b-1e6cdb1a211c CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 711e1b85-53a0-45f8-8b8f-aa96a0595d99 CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 125271b8-6f34-402d-a359-e25698c3a16d CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495b6685-4bca-44ea-8c74-563bfbdb0bad CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532ee353-bafa-43ee-acda-463d72df75ae CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bef2d6b-6e15-4767-9ce1-656e4415df69 CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a8dfe93-9769-4c16-8ae4-2b26e24896f0 CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7460e08-d4e6-4278-9358-aabff5bc574d CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f98f3aa-71f3-4dae-aaf3-6a1f3ebc7928 CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bce2801-b72a-4ddd-bf74-d9f7cea75472 CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24bae971-7679-4c01-b56f-0eab0592b27f CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c066a92-dd52-4880-bfe0-d6be24ff3269 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c32c664-4ee6-42ae-9a17-5ddd2ec5d298 CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d1a6a6-a174-4988-84db-94165b4eae85 CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef65afab-994d-4b49-88e4-324cc21056ab CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97720c79-d2de-4b5c-8fc0-16e19e67f0cd CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44799280-15bf-46fb-b4ef-593d85fe73a2 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccaab61-6d3c-41f1-839b-fc8563fe262f CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5d4f109-12f8-4f08-9374-aefc22818f70 CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a48a1af-bc79-4901-8ff7-bdaeeed22c85 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c4220df-37a7-4379-9cb5-2fb918279748 CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc9d7c6-d262-4d15-baae-eb7d8ffc6e89 CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a455bd8-6262-415b-bb40-2d109a20f568 CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381f0fbd-a81c-41fe-aa0b-b7ef610d2f2a CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c6cd87e-d6bb-473b-8696-f15529355a46 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1090e6cd-6161-4062-82d3-7ccde289faf9 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4c3afc1-45a2-4341-9710-0f0df972731c CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de4dc73-9471-4cb2-ba8c-793729be8365 CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47408a04-ddb8-4d58-9740-9dd0fd91d875 CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2d4d19-ef67-417b-bd1f-4ebadeddab53 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3006e3c7-75d9-40e7-a94c-b1a803d696e6 CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569526f8-5eaf-4851-a0a2-3e1306e92892 CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3de2f123-cff3-4e0f-a558-38b17a92b9a9 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def07868-e708-4832-a1dd-19a8ebde7afa CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 516dd52f-c725-4984-99d3-6287d2328a40 CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b74dd02-06ae-4cf4-a404-057ce87d0015 CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42ebbcc2-453e-4861-8563-d9cf35732128 CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f46cbdbc-7365-4940-833f-4e448451cbc8 CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a1c1f1-10c0-41d1-880d-aad1cd7d6280 CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5783347-9561-4d62-b3ad-489ba0232c38 CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e60cdbb9-94fd-46a2-9473-3eed6d704e68 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55c6572-5d3f-45a7-91a3-ef77aa35dcc0 CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34c037cb-999e-4ca3-b6a5-f5b664295df1 CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a82a7b-a40e-4298-98ea-21d9ccdce16b CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a614d50e-63f9-4de4-9cbd-87f21f4d612e CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c66270-169d-44a2-9b0f-06f1ca79d65e CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14b796f9-e774-4b9f-a5cd-32a5f61b6aa8 CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9766aa96-0d07-4d47-90b1-3f1d02a6492c CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 163479f1-87b9-4490-bb25-a9570df432bb CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a61d229-edfc-4f6a-a71c-93cb533034e9 CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3398faa-615f-4737-bb21-d3fa36726d10 CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2810efdc-6fc0-4d13-8b97-99e3b3ff1df7 CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7afc7ac5-62b8-4f40-8326-f3342f0d94aa CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb40ce4-7937-4d74-a5e1-e299bad3c1d6 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a529f5d-176e-4fcc-b56c-b4fe0a7974f5 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ada4e18-190d-4c78-a7ff-c3f68e998afc CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b18919e6-43c9-4c70-b528-93db88a0ee96 CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd8cde1-8cd7-4718-80f5-b49083fd4437 CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 548528d1-3d74-4cae-bd49-3bc62e20eb6d CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3edfbdb5-6508-4ba7-a71c-9a22fa19ecb3 CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03fdd6a7-456a-446f-9a57-bb9aa5c64474 CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930e952c-580a-4cd6-9eed-c31215e995e3 CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b363da0a-c06f-49ab-a4a2-92e273fd3d8e CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d926ce-cb1d-4891-abcc-c47f703119dc CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c703a22-da81-4bf7-8bc4-85814d744107 CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c774e1-7e2c-49a0-827f-bad720c87795 CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72967fd3-f4ce-4282-9c2c-1edb3f18232d CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0437fdb6-c044-4bc6-b6f1-c8b2b08ed989 CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ac3ddc0-1caf-4e4d-b49b-96f0cc72284e CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa4e756-d806-4b16-8278-7a58015e598c CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab6a44c1-8f5f-4ab2-921f-fbdb9057ab62 CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed348413-1dcc-4b8f-90a7-c94f28fd140f CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 487ef27a-bb99-4b2e-abd1-ab472f7e3071 CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34117a09-da8b-4335-a78e-433254aa24c6 CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89489d32-4272-41f9-9bb0-758a50c91d5f CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d9aa45-f3ba-4268-a43c-edc166f4b4fa CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1639318-1150-4e12-86ae-2d72f51ea9e9 CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7870f375-1c62-4810-8bd1-d258dcc4cb68 CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 067f0734-b551-4682-99d2-b083b19894bb CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8ce69f-06b4-4f4a-ab86-88f2552514a8 CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ce8cf0a-360f-4d10-893f-31a6bb36b877 CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b24f4b-ae17-425f-a453-5f7172dcdecf CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10b9870e-5386-49c3-9a48-50bca3dcc1b0 CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8456e4d-565d-4b42-a520-7a28684b051d CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc14fe7e-023b-40a6-aec7-21db9ff4870c CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f34af88-04c3-46ea-97a2-83550221335d CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ccc9408-740d-4a78-95af-387a96057cb6 CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15feb37-f1b4-4f1c-9cb6-03fbcd8be2d9 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29bec59c-078f-4795-a77a-6905da0faf0f CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bc15c3-e74f-47fd-9b56-c3d9fe8c1f57 CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5719d9cd-17cb-46e2-9ea1-39f9b57b6173 CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac330ab9-323d-42ca-bae1-6edb01df0916 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ca8efaa-f7a5-4554-bafa-21e3a393922c CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d264bb3c-35d4-45c6-9493-13ff8cc50b74 CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6086a375-96c6-48e4-8a60-7ff8a4a6d221 CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a92c288-5dae-4411-a455-c4c49c9370d4 CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13880fda-667f-434f-9b1f-fd6b5c0c1db3 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c83da4-799e-4cb4-abad-2ade77cddb1a CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bcef382-53af-4ed7-b278-9aee50535e1e CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8ebac7-3741-46c2-af21-de51e2e0a0c9 CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2af426c-6ff3-488c-814a-fe80a835461f CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c436b25e-bedb-45d3-8634-0c43e785714d CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d099637-cebe-4d66-8a2e-3cf6c3567c6e CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01dc29c5-fe48-4db6-9978-ceadef376121 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a608330e-ec89-4c70-be7e-1660ef73edec CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac3ecd6-14ea-4c1e-8e6c-18820bf3f083 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb8ec24a-310d-49ba-83f9-4ec912796cee CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f683331-c32b-4a0d-9dac-00a8cc8a36f6 CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57ed6811-bca8-44bd-a395-486110efc850 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8757dc43-e33a-4c41-9080-fa3adf89ef25 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f68feb8a-75ff-4ebd-a9e9-7c6dff7fdf3d CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0519a175-b706-4fd0-8f87-e131269e392c CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4edb58a9-2372-4d0f-b41a-101daaf20c01 CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96da988f-1469-425f-972f-5ce99e685a67 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b00609b0-e025-42f1-be62-4a13785db39d CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e12300c-1be4-4bf8-a7bf-047cc577b33b CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b04af34-1a08-4000-92a7-c92c02fb05ac CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b72d7f-613e-4f46-8af6-69509c96937a CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32b39bdc-95cb-4a99-bedf-aa89eb7a2538 CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15db195-557e-49a9-af0a-10e457076f1f CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b20fe3ff-61e1-4d99-bc97-eb074b9c8393 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bfd78d8-1659-42e1-85dc-993d1f9bcb70 CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a1cd5ec-a69e-48a1-a324-19f6b4a622b7 CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949d966b-d3fc-4965-be0f-b522887139fe CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 945a9b5c-3ecf-4b40-bb02-4cf18d96836a CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e93f89-b19e-41b5-936e-6e54f29b2afa CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce8903ad-8772-4cf1-8a5b-f1bcf2b2616b CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1da54eb-b91f-442e-8959-e4adb99738de CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10f4448e-e5b8-4985-b24d-57a3fa75fb12 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630b776c-93da-4a29-a181-0543e5b8f9a6 CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 489ebaac-dcde-4700-9a4f-20fb04412ff2 CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 396ab995-5a2f-4bad-8970-97204b16a3ab CLINVAR:569548 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a0b8854-4ce2-4014-8e7a-f8ab098e24ec CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd59159-b214-41cd-a8c4-22cd40fb6513 CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40712854-67a5-4a34-9157-75cfcc6b2f93 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04a53b5-7820-4912-aab5-91a48587e7f4 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1ce15a-19b2-40f9-ab9d-e5eeeb59678a CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4ec6c0-acfc-4f13-b13e-e5e79b4431dd CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ccc773e-b56e-406c-a679-6bf677e556a7 CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd58f856-dca0-463f-9b99-bf0bea972ffd CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21f4d10b-41e8-4f43-a513-d077c89bb951 CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1b39cb-b076-477d-b30b-58d1f2d0ead2 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8544133a-239d-4539-a56e-1771613484fa CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcc2268-6cfa-48db-ba8b-d1cce15ddf83 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b16d0703-9809-4e7e-bd45-88a60dd15479 CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3cceedf-55b7-4f0c-b08a-04eef9945b4a CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37da4851-2c90-484c-b7ee-6f4c2b8ebc4f CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f651752-1ad4-464f-ac20-723681100285 CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e24d7e1d-5123-4b82-acda-4522d458aa3b CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5402cb-c21b-4b57-b61f-890ff629d2be CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85b77299-a043-4f25-a824-26ed8d8b67ef CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b6fd7d-5486-46d6-943e-deadd2281574 CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ec5da1b-4344-4d20-82d6-613a528a941a CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d1740b-0abb-4ce2-84ff-fab33847da44 CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 697f2c69-02c7-46f5-bda4-4c0836097ec1 CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a63e18-86d0-44fd-9ab8-9964e99ed2b1 CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bab9f25-bdff-4f1b-a20f-2e7efd15b162 CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7135495b-4581-488c-a95a-0840851a7430 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 638d7120-411c-45cc-9e3b-7957ce029474 CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f094a805-4c85-4b13-ad70-8f1a37d684a8 CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19549ebb-324d-4147-ad77-f0a5a7f83747 CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ad3b16-b569-43eb-93f6-67e706dc67ab CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 067f30c9-28af-48be-b0d3-4b03f56a8e77 CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a919bd-f54f-43ff-a58e-acc8bf91250a CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a16739-06d2-4215-a4e0-a15339f6243b CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348e0392-6097-481c-8c7d-fa536e9d327e CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278c5bd4-0dda-44d8-b462-77d6d9c8c562 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7ae6bf-119a-4977-afc9-e7d395a359a7 CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cf9046d-d130-4e1c-aaa5-c8d198955e04 CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14f5c2d-22ad-42a9-8358-5603af0712ef CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26f02bb6-56a9-4365-bfa2-bcee6726becb CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5dcf5a-42c9-4bb3-890e-c9a9b8a816d5 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6d7b1ce-5391-4d72-9eca-b346db5c0850 CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572355f2-a805-4059-8d3c-d09d282533e4 CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7b17d3a-85e1-4ef2-8996-1f885274a0ba CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7944dfd2-8700-463d-8165-1e0110417107 CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de659971-41fe-46ea-8418-3ef7c172b2a7 CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27de369-6bd2-43cc-93b4-a3ee545bf5e7 CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cc81187-0c45-470b-adb5-8af39b937f3b CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9735b34a-0f50-414c-bdd0-fa280f996bd0 CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0a1d9d8-5455-44bc-aceb-613cc81c14f7 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852a6445-cb26-429a-96c8-b89ba10ce7e9 CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0f569ae-2a27-4905-a645-3a06bc9f94d2 CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c41b085-1084-41fb-990d-cb8a39d4f6a9 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12e2b5d2-fa47-46f9-b704-379590c7ebf7 CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2377a3a-1b64-4b54-a977-3fc2f5316245 CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ace00718-c10f-4383-a966-1a131111202d CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca2b37a-b9bd-4525-be9c-44cbc65dea1b CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db870b87-54e3-419c-87fb-398bbf9b06ca CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb9671c-5f12-422b-a39f-9ed3e03b86ba CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afea53dd-2bad-43ab-9963-b3105a0725ee CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd877f7-9554-4194-a80c-38cc2fa2858e CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8912216f-702d-41ee-b5bb-a703f2e89a07 CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0740f9-4af7-47d2-8096-e1a402c95872 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5345ce7b-10a5-4325-a386-1090c34917db CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7fac8d-4915-426a-b3fc-ec4d2a3029e8 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1210c57-ba3a-4604-ac0a-0d3810c486e4 CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f2ba83-0fb4-4eee-a538-9be44416f830 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64aeab48-5c79-4ef5-bee6-64737593f762 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0113fd3e-39ae-4f32-96fe-f2aa4cbbb3e4 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf59fa58-95e8-4a15-9aa0-bdc63091f3ff CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7acae74-e701-4f9a-bdc7-fe156b24851c CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34b7c7eb-0c2e-4f6d-9bd4-6ecd26720b94 CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a25120-15c9-42a0-b9c9-cb1b4897e72d CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b29d9188-de73-4dc8-ac57-684534b9ec2f CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b97cee-b84c-4ec5-bc7b-0bd79bb7179b CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ad6802a-323e-457f-b37d-74519d99b05e CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d38d527-1208-40ec-8fc4-ce18705a2795 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2dbe677-35c7-4989-8664-9e1a167b3da5 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4df706-12de-4116-9f48-b0de567e7d36 CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ab22301-a99d-4ece-b1c4-e8fa9c59d285 CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460409fc-9eb0-479e-8050-819b87a8cf92 CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d076795-48e0-437a-933d-50ad17b3554c CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2962bc5-f041-467a-b80d-fefe6ede9bb5 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e46e510-d58b-4cf9-87ac-c320fe7ddb3a CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3753138-02e7-418c-9880-6e60d068af64 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d6489c-9e24-4b34-9c75-9ea9e164b95c CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28923074-7577-47c9-b5bf-1d5187f802f4 CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e4c19df-81e5-4a75-adfb-82c051a5a2a0 CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d7a34f-2b61-409e-8101-ace535a25082 CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb3c2c55-c18c-4068-a029-d4f21e104503 CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3f6810-78c3-41c3-877e-0e999ea89080 CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc27fc7c-b018-413c-bb48-09c26681cc70 CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaaa624a-3bc8-49c9-aca0-f5bab3e74aba CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c562f3e-69bf-4073-92fe-fc033ab603b5 CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f4de8ac-a39f-4d58-a24f-e7f15aaffa2d CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 640c59d8-db99-4677-b093-c821d9b50214 CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e144c3-82b8-444b-bf79-2406c842d6ef CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80139fbc-a83f-46fa-81ae-7ee76c4763c9 CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9514e62a-eaf9-47a4-8332-bfb3fd897352 CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 932461b7-d74c-432f-bea9-7fd749d65218 CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78bf4703-b9e2-40b4-a27f-a93df71e220a CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5cbdf84-0fba-457f-82de-fbc03e3fdfc3 CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55adf989-9ade-42f3-b6b7-e2659f191cec CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 380b1d6f-5dec-4548-95d4-7c5525fde9bd CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22650c0-dbc9-47d8-bba6-4740e72415b9 CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0325add7-55ce-4e29-b342-d9a6f2f03d91 CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bca368b-a528-4e6b-b6fb-85263bf56f7c CLINVAR:425882 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5eba3406-6123-4206-bd99-8f7988944f64 CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c145b90-6e4b-446a-9125-eca081a9794c CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98094eb2-d46d-4caf-9f1e-9e45a4638fd9 CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d43b6b3a-98d3-49e5-95a0-4be26384f2fd CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c075cce2-8417-41f6-b3e5-93c3efc68301 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df381ee1-2a49-4b16-93c4-ed9d297bc38a CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec954784-d49f-47ec-9813-7c6fabef6e40 CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3620359c-a5de-4f11-b54b-5565ba265116 CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 759e57f9-03cf-4ea9-ade0-b129d73e547c CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f25605-84a6-49a5-bea2-2d70ad040dbe CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91f11048-8b05-48ee-90cf-2dc4ee2e4b33 CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8d613c-96fc-474e-b91a-a7159dd4d5dd CLINVAR:812826 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e76ec20-8aee-4b91-84b0-c1193228afc7 CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb7941a-856a-4700-acd0-6c4ff2fad2d5 CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5840be89-9395-4260-acee-49772cd9538f CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d052df-c0cf-40a5-b669-8e7c8f06bbc0 CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93697439-f290-4b52-9a16-b47173aa30d7 CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efec218-bed9-407c-9912-de950a8ed426 CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22c6f3c0-16a4-4a18-802b-c2c3a8d42d9b CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67767ad-64ab-4969-b9cb-eef2e3fe04e3 CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c79b278a-3b6c-4544-bcb2-161e4f049e36 CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e78aab7-2438-4152-817a-c796d703969f CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e7666cf-3cd4-49cc-9dde-950f95e38193 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81b6099-71d1-422c-80c3-2483e5c8f983 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbf6604d-7f07-4022-adb9-d76e6f8e8d34 CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f7becd-47e9-4e8c-8594-f8511a22201b CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 339f0de5-653c-404e-b628-212ad319e6d4 CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7492d1d-6b2f-4d6c-b856-ae0b7c891256 CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e8bb40d-67d7-403c-ab4b-5c1b77e50f36 CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ed131c-a055-4eef-a353-5f239ace1cc3 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e47326ae-cc0a-465c-9c26-930d1da39eab CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd80c3f-4ebb-4d9c-8946-237d092926cc CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84e3348f-a5cb-4911-94f1-e45460ea2799 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1c8035-7fc2-4b30-9106-5777b5458326 CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc85dec3-2a52-4659-a4d8-904c736fe6bd CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707b08cc-d550-474c-9c3a-a067a4384d2c CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73c84191-6a09-41f9-b899-ba03d4e1d3b6 CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e686858-376d-4e2b-b085-d09ce75e12d9 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e086fbdf-9987-45ea-8215-eb87a00ec443 CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56709162-b608-4e37-9b9f-1118b597ea58 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b76b93c-aab9-48c3-9d51-052c840401dc CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798d1059-88e5-473c-ae5a-71957b4d36ce CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9411af4f-4f5b-4f0e-ad22-3e7c67753c08 CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed03d50-8ad5-4097-be61-a3b0a7666a04 CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f6ec31a-dad0-4765-ac54-a14d845e7f82 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2d72c8-d88e-450d-b06d-d559b4eb08a1 CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d6c0a1e-9fbb-4f34-acde-a93e5f28b46b CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214fe51d-476d-4eb8-ae6c-bf8edae3ca68 CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6eb60974-c989-4013-a52c-b2cd9b99be59 CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71add2e7-42e2-4fee-aedb-9aef1e64f93b CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb3aba2-8f09-41c6-b425-3e78a41ad287 CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4553c6ca-1d8e-424b-a85c-b0b74e1aa670 CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f212ab71-49bd-4b56-a2e3-df7cce3c35de CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e980f7-c18c-4da5-bd86-6cab2f664ed1 CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3565142a-94e3-4220-bb3c-fb1daae03d5d CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db441b44-7fee-4fea-8444-d7f45624d37f CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5d2ef1b-0faf-441c-9c04-14f570e088a2 CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfac5f26-a96c-48d3-ad16-7243f308cbcb CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b03a6cc2-b58e-4e22-9f22-54e98ed7613c CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ec1215-4a2d-45c0-896b-5d070ccf5531 CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca6e9c5-877e-4476-a204-99158cb73750 CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa14c78-400b-4a9b-85e0-91ea012e7088 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7120ffac-d951-49ab-874e-bdaac8a1a0d4 CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0eec4ff-7735-42c4-b0fd-1889af475401 CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 511889ba-4dc2-40e9-9959-71f4c7690465 CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa85ff2a-d88d-45f6-98f4-e3334acf9299 CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 045509f4-857a-4e97-9101-2399280fe9ca CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9aacda-10df-43bf-9c12-ec6bdbaec307 CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e45434e6-3cda-4151-a7c2-686462d49f5e CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2d3bd0-476d-4c5d-94c0-7bbd4e61d4f6 CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05da2e95-1a45-46ae-82a7-07d6024785fe CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb0a3f7-0895-4d11-9e94-c808fcff7ece CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aee7c1a-9a33-467a-9582-c3f5cc72ac9a CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ecb7f9-5faa-4e70-a461-16dfbf54b877 CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bef7f69-7cb2-489f-9657-bb75715ee1ff CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b48039-5977-424f-b82f-950fb113e645 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f694553c-8511-4c86-a563-18fe54e21f08 CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87024df-a85d-4bef-8190-f4f1bdeb8c15 CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2dc443d-23d6-41aa-9689-725bd62f28d5 CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf34b19c-fc7c-4d33-827b-ef7b99ad4da1 CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 810b8c5b-425b-4661-8796-1296c90f5871 CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddaa60ce-0976-483f-b67f-049a3f1c05d0 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59bbf9cc-7074-4f96-a4ba-ef79ea384b94 CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ce3b52-80f5-4e36-af79-215c9b756e8a CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdb75c2e-7949-4d64-ae81-8f95f50c9655 CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3746bf-138a-4bc4-a742-ae3683123e82 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0548c1f8-0c08-4fca-9394-163b34c7eee7 CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cd5644-9f56-46fb-bfd9-8527005728c9 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23530f9c-9ddf-46ce-a9c1-3be435e88273 CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aca69a4-a559-4b3c-a8ee-53a54b6e860f CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fd851b1-64c5-4587-b90e-ab2a347eeea8 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85a88f2-277e-4671-8939-59dd9cb9af5b CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ff20579-5ab1-4777-9138-65f7bfccca39 CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be3035e-5df0-452c-a82b-c55b0ae6056f CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e89fbb8-5bc5-497b-a756-f7e9a5bd49a3 CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb3b69e-3ae1-43c3-887d-ce91be2c53f5 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 270b48a9-ba17-42d1-ae1f-1e974d7ea971 CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538b33cd-6c4f-4557-a6d3-cc124504345f CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6e4c29a-1b55-4ece-994b-4198b278e207 CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408d60ef-c6f0-4137-8b78-dc14b6fb4fa8 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87191142-e03c-43c9-8e02-ef8a0229f8a8 CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b45a54-3b35-4a39-9301-699802587592 CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c0db4e0-3092-4bc1-9d1f-df25ce4a99f5 CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b96e33a-3398-40dc-81dc-fd944ca772ee CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bcb6d98-97db-413d-8cfc-910e83d43b17 CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2e81d2-dbea-40d5-8f5e-b7ba85d66343 CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4207874f-57e6-402e-95e7-8c358af2a108 CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee39fe84-d586-4f0e-9e15-58ee3e86eed5 CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 470f2c96-6bda-4187-b5b1-a90d169d7803 CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5641b47-5694-4553-b56d-50d1897bad6d CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a06895b8-4f30-4530-a219-8a91417ae18d CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1d7cb0-5a52-4e05-b4e4-27e89effb47a CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23887b04-ecab-44d6-a818-8f8937001255 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c0aa84-826e-4581-bc4c-1027974d444f CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86a18f34-f137-40f5-99ad-c1c0bcf8d3d0 CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa322e25-0740-4577-a1b9-a0c7d1695512 CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5aa8f85-867e-4977-b3be-54a586b09f46 CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a1b798-33c7-497a-91b1-fbdbe5289e9c CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1cf265f-9cd8-4650-8be3-6679793439fd CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48009f4a-1eb6-494d-af13-7731c77e3345 CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95321de0-16b7-4458-9fd2-817e9c54c319 CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c7d2b7-335e-4533-a260-fe0abe0b070d CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9075f82e-ecc8-4823-8f24-8f4d639b3abb CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4513be-02d1-4640-8cf3-39f3e9ccba17 CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00a8fe8e-3c5e-420e-9231-a8707f97cce7 CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4813d720-dc6a-497d-8e67-869d427d0511 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f217f72-4ef3-4ee2-a013-41db4e9c2056 CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a712cba7-4d37-49c4-9bed-39ec836d7cca CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39e8eca8-9fb5-40e7-8594-66485aad1347 CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd505d6f-cf76-4ba2-b43b-44f0d978ace1 CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b53d4bf-441a-4c0d-a066-8fdab443bfb0 CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d866ce-c42d-4ad7-abcd-689da1ed23b7 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c22b6ee-d2b6-4709-8deb-e74eb4b5e159 CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7630eb42-8afc-4a7b-b8bd-f7a9038dc49c CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 153232aa-1fcc-478f-8290-20655ff97a78 CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf53ee8-04dc-4920-ad1e-3fcdeb951f1d CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4793988-d142-4579-ba7c-3c177ca548b6 CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd212fb-3080-4a6b-b656-e8764f458f9b CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b29ecbb3-a4fa-493b-89c7-046e7583b76d CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ac2a97-c771-4d51-aaa0-6f6cf58fe280 CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9072e2e-ef03-445e-aaf7-207a5075601b CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2ab47f-28a0-4d53-888f-a4152bbfcd1b CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 142aa060-1ab0-47ca-bf5f-84d50e7fb45a CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed27c468-e025-430c-845d-ce7868a6e3d6 CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4b0744c-594b-43f8-a3fb-16407915707c CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de96304b-a876-4b0a-a8cd-633b123c3a15 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24d74ef9-4f94-4fe9-87c2-edd314f1453f CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec79a5c-dc0e-486a-a6ab-92fc4d4e4770 CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12344220-e3e5-4daf-a977-b80e0882d061 CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed7fe67-bd56-448f-b066-fa8acb5f97e2 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa5aef75-5df2-46b3-b17b-f9a88308f215 CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a4b7cb-184a-46bb-ae25-c485ca360454 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da3639b-4bbb-4e84-8c4c-0b4e9ec40400 CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800021b8-b322-4920-919b-a6caa8691f5f CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f955053-4540-4e04-b70e-ef851d373b94 CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a206d2-2bf0-4453-aa1a-ad94d785e607 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a3664bb-c2ba-4c5a-b476-01c09d3f93de CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0eab65-2b8c-4e55-a3e8-c293b0793f7e CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a6e0054-066c-4b59-b33b-ffe0c490c90d CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343713b2-8e65-44b3-a724-d0c1e25c3c69 CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77eb1317-ceeb-40c5-8427-0e5bc1cd2213 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880756a9-3f5c-41a8-abff-a1ff0198b1ba CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2db2e859-a93e-4094-8da7-879d35b7dd9c CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8468ff69-7a5e-496a-90d4-e577d13c6651 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b278e1dc-6017-4c6a-845a-3bea90126185 CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85426d1b-7171-4e84-9d35-899c3c7d30eb CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 543346f7-c782-42f7-af6a-543c70083854 CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13038e32-3d2d-420e-b365-9d33220e9fc9 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df77feff-9969-4dfb-8053-b88dbc203060 CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b427bd0a-ac2d-415d-a6f6-9b3d4af459ea CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92cb334d-0a64-4f66-a558-a0399f2eeb4a CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8f3c9a-8216-4602-8750-6e3d1b96a92e CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2a64730-9084-49c4-b168-9f66af89c1e8 CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca2fdb9-9636-4da5-93b9-bdfffb12c385 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15a91338-fc1d-49fa-ac3e-55724a994107 CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78694055-56ef-40c9-b03c-98df07a010c0 CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbd296d4-2738-42fa-800a-a0faffc20dff CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54482448-9249-4437-96d8-1b77244a8e03 CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36c587d2-15c2-4c99-b1c6-6ccc4b3bb1d5 CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41314c8-b3f0-42ce-8850-4f818dc05355 CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1898f55b-5b05-4cc9-a9b3-5cffe40848f8 CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e36bf3-c003-4f10-91cf-6a5305adda42 CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b2cfe7e-a61f-4f96-91e1-b588f99ab308 CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672acc90-fe3c-48ea-b4e3-735b97e2bdd2 CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9cc1ccc-3adb-4954-9414-6d649cf15445 CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bb4d70-5810-4639-8ad2-f9f137bff415 CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72b26456-5859-4090-9541-a9fb52da5ec4 CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0946d3e-fb00-4fa2-84e3-029332ed711b CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 301a907a-27a0-4311-9d65-270bbd840160 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b96aee-a45c-4369-834e-85e54fe08837 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ebef7b-4d32-4ff5-bdb0-16228aec9bc8 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db816368-d448-4136-9199-6c5d19b418ec CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a439d14f-cf11-4432-92bc-e745e6a17004 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903e939d-60d4-441d-9610-eeb444c10fb1 CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf0fc66-0b81-4c6d-8d88-9cfa8d37bdb2 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc020688-cc66-4637-b75c-650edaf9c8b5 CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0b5d5aa-4fd0-47a9-aa0f-72c60ae76a8d CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edbd26d-ca9b-46e8-b6d7-b3a672c84425 CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f80dd280-566a-4443-99a2-4f9606a370d0 CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea8f5db-2290-4270-b489-35d48ea070a0 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdbdbc54-d4b4-4bcd-a730-6a3915abe312 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc81969-5927-44b5-a62f-761613c9e0f1 CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94bbf9ab-4aa7-4809-8746-b8d082077229 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf546a3-8189-46bc-b966-5f2bfc5c1938 CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a042203-f203-4f67-ba91-5181714269fe CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9796aa-9978-4d99-8324-bdcfcb246702 CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77d002af-257c-46ae-a9c0-2d6e595c14dc CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457395c0-e31c-4ca1-8251-4e81d8ed196f CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 993bda0a-9211-45e7-b6c5-d15e373b4881 CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a28a444-35ff-4fc0-92a3-fd8d8e48059a CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9401858d-7deb-4c95-b67c-5aaf1e0515c3 CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a17bb0-d9f9-4efd-80c2-2a21e80755b7 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b99654f0-1123-441c-b161-d478c45f00c2 CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b54ab0-318a-46a7-ab18-8c4229dd6141 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45f2d90a-4e59-4296-9c75-0ab7c38fa8b7 CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e516357-453f-4059-a4c9-554cb6c26806 CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4cf1595-ef5c-47ae-839b-bdfa9bebced7 CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b86daf-1af7-4db3-8274-efa14c40c0ad CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e7640c0-c092-4001-99d9-456472362394 CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d37fb2a-73a4-42fd-9312-4730706a3146 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 323033db-dfae-4499-878e-2804097d4a43 CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb5251d-c13d-4588-adfb-f905b9230fe6 CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 907815d7-043b-47fe-87a4-19f59c2df6a5 CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47186aac-72f1-4ac5-9ec2-8b5a89213f4a CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c427c81d-91a8-45bb-848a-7d05d60cf615 CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12346920-20ab-474c-9612-6951068bd8ac CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ba2d8f4-a128-4a03-b011-73afc7856638 CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c76c50b-265b-4ac2-b066-9343112c427c CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6ececad-8632-4168-8dc7-b23ee5b8a46f CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cc2707-3adf-4078-9ed9-217688b3b9b9 CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 732a0723-ec15-44e0-8df9-78a0e8503e45 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56154fa7-e66e-4675-9faa-bb722c37966e CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a83d8a1d-0ee0-4f04-807c-6cca7c26b6a3 CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a7c01b1-02b5-4b98-b38e-b250961b05dd CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7333413f-6211-4a9b-b19a-81eab1205ed2 CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e2064d-cb2c-4618-a507-bde56a814701 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9417ccc8-1c4f-4386-aab1-80284050bc18 CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e100ab0c-0f21-42af-ad2b-b916b002f5d8 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d64e10e-18ad-4049-aff0-5e02ab4b77f3 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c38530d-695a-45c5-8a7a-5b3e8b5a13a9 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77cacede-803a-46f6-b557-ce474dff9678 CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59079a2b-5ada-45b2-a777-ecdacbb45d96 CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d361c70-41d3-4ab3-bb5a-1288e4d66c99 CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c35440-8f4c-4f30-93ad-98fe1254e2af CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af4febbe-f08e-4669-a824-b3933121eb5c CLINVAR:3572871 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d990268-1d2b-4bb7-a2b1-a60f720a0a18 CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fff8f9b3-91f2-46bb-836b-b38046de890d CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162c8e98-e390-4257-9a01-e6e9f1169da7 CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a2649a4-2776-4210-97cd-70f7a7792b27 CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cd448d-f009-4603-b6b6-1d77066924f0 CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77ec1c4f-3775-477a-8849-6c5509caec93 CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f935d5f3-4da3-4408-8222-437e5cfd4715 CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da45fbcc-e37c-47c3-8f85-9dc66f12816c CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44527cbc-1d00-4588-b4fb-3767d9fa6f4a CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53088700-e2e2-4bc1-af46-6e05d0d2bf91 CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b1b519-fe10-48a2-bd66-349a962924f6 CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a519c7-14a7-4666-8fcb-b0ab56decce7 CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac7359d-b804-48c9-9a1d-15f46b2410ff CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abf4d767-6f4d-4357-8555-16d19d971978 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d606309c-b787-4117-832a-36277ecc6d70 CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9eaa0ae-84ac-4a12-8458-a8f8cdb2829f CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb88c34-0b41-4191-9f27-35e449ab338f CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57d59fcd-4160-4f1b-9d6a-13f2b951d780 CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2003e241-6ef5-49a6-9ec1-17bea16598cc CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f7ca97c-ea2c-419a-87bc-30e4f6ef7564 CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5034ba-898b-407d-be2b-e3225f6199ae CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f201721-a857-4416-9115-98da5bd9b95f CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da404f6-5df5-4b64-92cf-7e607777cb10 CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27e29766-628f-43f4-b470-77bcd904b252 CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ea43e5-83b3-4e43-95bc-3e52997f32c8 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b76c536-5dc5-4f24-a011-7f9905b3ee62 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5b19bd-1932-4c9f-9a6d-7a0028ed3908 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79410716-c72d-4c48-a5cf-294df13ae504 CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48117f68-226d-4fc5-b7b8-e47b43c6b0d5 CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc26c86-eb6b-435e-97e3-bf47069751bf CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1793fa-bb7d-4e6f-ad4a-ae5078f0d653 CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dae6d4d-2b75-408c-b3c8-a5ced0368b2c CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf955d7-840c-46bb-a660-756e376f3c81 CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbb88e86-0494-4c77-83d0-c6448616a19f CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d17d1bb-987f-48cb-a1b6-96f20cffc9dd CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b4f24bc-7f01-4852-a5a8-b4ac25f37498 CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac94770e-0fef-4c63-8683-b84e4e279a07 CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fce793d-524b-48cb-8a61-0f333ca35802 CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceadbbf5-a1d6-4e1e-b718-b6c1afcb6cf1 CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19ea66bf-fdd9-48cd-b11b-2462e555843b CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb8630a-f43f-4be9-992e-7f78e40c4be2 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de4e4ef5-b26e-41c2-922e-d322e8a162d2 CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4269f74d-ff2d-4ef3-b74b-a2578d919f93 CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff95c1f2-743f-4255-b0c3-379cd9c9f87b CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d33dc9-8e5c-4b89-bf0b-1e5fd2cff193 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55173368-0871-4621-b67f-4e7f86e1ce9f CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff98684c-1025-4539-82b5-f49462f02deb CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27f6db48-680b-479a-af40-6e1aab39f1bf CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612c790c-29ef-47cd-b900-82462afb26af CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 452512b6-eeea-4337-919e-22b9b76c2110 CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129e1ab9-f90a-4dd5-8e5b-284382067b05 CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54fa9225-4832-4d30-93ea-813910b47156 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be90a756-7656-4789-ba81-d44a0f28d5d6 CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8a7197f-3200-4963-a141-6b46b29639ed CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db42d682-0d5f-4e23-8270-1db4931a6c9e CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c93505c3-c3f3-48f3-a6db-1a250d063032 CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ccb2c37-9677-4584-9e35-a4e836085993 CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99e6fd16-682e-47a5-9cf6-820eacf663ec CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775149d2-3a93-4bcd-91f2-23938570a20d CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a55fcc2b-4403-420c-b2bf-07afb16442e7 CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c08054-73cd-4ef8-818b-2e64e942b775 CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68c9d306-3b36-44fc-af61-46b5511bee3b CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c25a845-d33b-4b6b-b64b-dff6bbc7d0ed CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0dda1d4-16ee-4a7d-a89c-b5528a6f3c00 CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61ef29a-bd80-4b8b-9d0f-4b58d703413c CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4450be-eee5-4891-b68e-6860e7666f1c CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d44ce0d-0d40-44a8-9c09-344dfcd6c4e4 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b145dd0-34a3-40b0-b6e0-aa9dd7f79c33 CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b9d4cf-d98a-4fa1-8472-b94b427a52f1 CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db18ae64-3acb-4231-bec8-7056b2cdc25b CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9945f4a-ae98-4819-a98c-09d25e5b94d2 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2baff9-3c48-4420-97c4-0dc9b4193d81 CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c6d247-5517-437f-a9f0-ed7436c6b1b2 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f9f8161-af71-4d1f-b54d-035dfb44dfa5 CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3435cad5-ef2e-45c8-9b09-48db9868b5ee CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c071b576-c821-44e9-8340-8efe8cbd119e CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98c8f70-532d-4e5b-a7b2-ec9552615b34 CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa2474ca-75d7-4cee-9c3d-15bd8fbd8b3c CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82c3ec6-af80-41f5-9b94-8c55eb1bac43 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 245ec01f-4f5e-4b96-ad65-0700668c6081 CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 475e3626-4f45-45c6-854d-e9e3a2719074 CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da334914-00ca-4419-bc90-7cd530d20ef7 CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4176186-2a4a-4856-a9d7-cae679815a66 CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58f3ff03-c102-424d-aa1b-9a544c4fb9b6 CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca256d8d-b688-4301-b46d-b7c8eb34996a CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 048fe1f9-0ec6-41b5-96fe-4e75f1b3a08d CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e9af00-8c60-4fa9-a9d4-d24db007822e CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5009090b-d9c3-45ae-8125-010fc985220f CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9be2eb-6738-4404-b797-245b03560387 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 615b9703-323b-40d8-b9d3-ee929209a398 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aabd0611-bb1c-41bd-b52b-0b960a0cfe41 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d2f6e1c-1e70-4b19-8e1c-fec19eda3cf4 CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0100b5f1-e90e-4b7c-8798-b178a7fd3086 CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1110c831-17dd-4f86-b17b-76415e77cd02 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd82989c-147a-42d4-9336-92769167aa4d CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b400b47-065a-4b11-bff1-ff63dc015db9 CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf4d4b8-2eec-4c1d-bea8-a0c5715dbcd8 CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a86a2a84-8d41-4d50-a36d-daf3b482fc60 CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994b5fb1-386b-4833-82ed-3757af7c52c9 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b726d9-60fc-488d-b5cd-65beba929214 CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6717dfdb-b751-4670-b57a-9ef6504e8058 CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20098973-6745-4fe3-894f-e9b75f851459 CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6b1280-4df8-4594-9583-55bb195c557f CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af2bc95-7e19-4024-af40-a3f9944027f1 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bc9822-e015-4669-a936-47dccd96e0a7 CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3850aa91-cc69-4033-872c-07832327356d CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 356d0ad5-8255-45f5-a160-43f1e3cf6adf CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c67aa5dc-1e8a-4c49-9c55-dc759a6803fa CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5393e3c1-1ade-4fc6-a410-441abf5a74f0 CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9209f12-d7b1-4708-8600-0e36afc691c5 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20382ca5-318a-49ba-9880-7b06154b6178 CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23107206-b460-481e-ab13-fc23e38ce6e9 CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85c17d8-e596-4c73-8a5a-1e72cae45989 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b828d868-6010-4bd0-bfce-3e3160a08c25 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34083ca5-14a8-4778-a925-5a7e51c3b6bb CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bd9200e-7617-40c0-b514-7e210f512748 CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398b3d3b-16af-4bd9-a913-ee946e4af94f CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ec19f67-a154-4ea8-bbd3-be7882e11ff7 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843e613b-1d8e-4b99-bd2b-f41614ed993d CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1ea03bb-ae37-4914-ae4f-2decc34dc171 CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d69b10b-cb77-4c65-b907-a97bfba1f7fc CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d25ef19-5a07-49d8-99e6-062a5c747a9d CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e93111-9d41-4e4a-90b5-8a479d3a8bd6 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0670ad77-49eb-42c2-984c-cee877abf19c CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838cde24-09b1-4166-8f6a-20f09a85d700 CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b819a44-244e-45fd-91d8-14a3f58700d1 CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26653619-86b1-42a4-b603-74bbdd5ecef0 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903d86c2-4bae-4b4b-b965-2ae71a1a8368 CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c16185-15d8-4d51-aee5-8ff19987cbc7 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fc04132-1b6b-4a73-85cf-a97ff4d63a18 CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c2da3c-e5c8-4bfe-92e4-b498c0fa458d CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c7c9d7-2e09-4dc3-9b06-d1202d796ff2 CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e871420-39f5-4dc5-8707-9708de7432ba CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9995dd95-b275-4bc9-a493-28cbe409d1f7 CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a972e30-3a54-4271-a9d5-859e2ce38a28 CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256b723c-ce67-46d6-a21c-9123c3ef0618 CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67393b6e-4eca-4b1e-b5b3-33c75d36538a CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ceae92c-2fec-4359-8523-1fb8ce2709e5 CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43753eea-9d22-4f76-b169-cd83c06e58f6 CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9375ee0-f260-4e0a-892b-b9ef13f9bddb CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221a22b9-4ad8-4fad-8a52-37333d300be9 CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a03f28-7304-4096-ae8f-0ba7f16fcd2f CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857fc453-889a-4275-8738-9756ebb20543 CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d21e4a1-0c3c-4b20-aa3a-c00ca14fa3a0 CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8582f36-31ed-4877-a727-05a4c2059f81 CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d31f559b-85e0-4a48-9ab7-fd79f7d78abc CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102f4669-5272-4835-908d-3a86f331e1ff CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8caa8cb1-0fb2-4f8c-9051-f9c9f935746e CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dc8ded-1f4f-47e0-9e94-8a9731ca0ebd CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fe02b65-26c6-4a13-b458-a36c7a5e9926 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e20762a-ad73-4b3f-8bba-813718225e74 CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5730708-5517-433e-8577-f49517ed9cf0 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44716cfd-3bcb-47fe-8201-ad917346f0be CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 891b18e2-b8b0-4d98-b22c-842a5a8cd3ad CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e93109-9c0d-42cf-a74d-4a06e3ec532c CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 190242c1-ee38-4c85-a264-07b0267fff1d CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3247c6-8550-4d8e-9a23-514dfbd68e24 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9c86ef2-225f-49df-b3ce-d4cda72faace CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa23a1b-5815-4bfd-92aa-f6e265445729 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85cd6dbd-d045-450e-9e3a-13acf6d8f511 CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635cfcad-74a4-4770-8efc-7c2d4c3fdc66 CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 235bf3cd-2335-4c7c-8979-133b31ddf74e CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c150706f-e4a8-458c-9732-b545820053da CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7bb6af9-b434-42c3-ba87-12e5f05291cb CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cadbea-c748-472d-a894-201f1a6f9f2f CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0860d955-8a77-418e-9a28-e59f28bf790b CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ef6f35-6d62-4b87-8a39-d8cb06fb4643 CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad3fd7fd-861a-49b9-9bc1-e6f06cc9d648 CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2ea787-8fed-414e-ba37-2c7b3c8a75dc CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c40cfa4-bb81-471d-8fd1-32fd8cfaeeda CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a885f2-cf36-4edb-992a-f9058a120155 CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd56a9ab-b134-4081-a972-d80020123e06 CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c4ebc4-9fbd-4859-884b-018606b191c7 CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c6099f-9843-4efc-9999-f748b31f3adf CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1377fe70-768c-4770-916f-5fcaf4aef01b CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bba51f8-7a7c-4da0-9161-86203e402d72 CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb2b3f9-d8d0-460f-aa6e-6108528f70a6 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f09bb328-473a-4b95-a215-17c266556b74 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8844ff46-ee31-46dc-bab1-934a2fce1cde CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3087d320-7c5d-4be9-99f2-b3104112d28f CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f09c146-3e5e-4dfc-a78b-a8f11519b6c9 CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9cdd59b-bb2b-4ccd-99d7-b4a4880df511 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb1dd11f-47fb-4772-8f40-a8f9fc420f3c CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d680662-53c1-48db-9ee2-cce50a746057 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41c03f9-019e-4142-ac95-80392960704e CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7674938f-b9da-499c-8aa8-b042048547b9 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8857e75-5af4-4fd9-b080-9ed28d033bbf CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29c2e18e-acfe-4be6-8e66-93e336f4eb85 CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0914e404-00fb-4f93-b048-19c1162e4926 CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b68e6178-2670-4958-971b-6594a4f56c6f CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e587681-307d-4b32-b707-a20ddc541b31 CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d37aa071-9b83-4787-9c17-607dc43a55a0 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34bf995-bf58-47b0-8ea2-d534bd055e28 CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca93a0d1-d6a8-4e84-ae5b-726955b02da2 CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d050ff-7215-477e-a782-cfc440bb94f1 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab40926d-e9a7-4816-aaf7-bc70f19bcfd5 CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f915b78-d5f8-47e7-8f67-2cb0f60c5e27 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92eda88f-6294-4918-96bc-fc65d9eb079d CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff16bfc7-9d34-4d03-bae3-4874ee5f3191 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4ce7782-cbd5-4c6b-b294-c6485d4d444f CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4edb5c-2eac-4400-a951-9f22d7a819e3 CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bbf10aa-cac3-46ca-974e-3b75c46b3765 CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab1d3be-0afd-41d3-af93-c57f597075f8 CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d999b12-7a5a-4549-bff7-b075bbd95685 CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9cc6fc6-f63e-4b78-9f10-253574830154 CLINVAR:1971169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c80ad0d-592f-4ef8-8d62-5183f4bf64a7 CLINVAR:1971169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dfd9b37-221f-47f1-aa9c-9b8314873acd CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0557ba05-8323-4742-a464-1a4303d852af CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c126a00f-4b1d-404a-8880-3f0c96566bc4 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b158851e-f3a2-4baf-998e-abf818acbac6 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e527cabf-c8ac-4f31-a405-8df77465732b CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02aa9d77-c848-4fb3-8b80-fb443705076c CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a211b28e-e157-4efd-80b7-1a9e58de91e8 CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3b44ad-d4ab-4192-8c91-762b4dae9953 CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f495b40d-6d3a-4802-9f4a-177673265125 CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 998000d6-0d6e-4149-80bd-b1296cb36e6c CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54303b6c-07bf-403f-bb06-121f7864ea68 CLINVAR:2759147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84c7be76-76b1-47c6-80be-d533232ec69d CLINVAR:2759147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59fd7b9-1d16-4609-ad7b-d71c20b6ff85 CLINVAR:1590532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c93bead-98a8-4004-ad31-97f02ef982d5 CLINVAR:1590532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1782cfd-1eb5-42f6-a81f-5151990a47ab CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06cb1281-5a29-4798-bc44-4791742bfa33 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3a03c3-1f78-41c4-8be9-0021a3bcf655 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e39aacd-9dec-4fef-a544-3d0834d6ec44 CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd445b12-6052-4a6e-9186-f304e468af3b CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72068492-8d66-4fb1-b712-b17e3448b485 CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d5a513-fbeb-4f4f-8672-ecfa5195476d CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b22ebc9-083e-4712-bc44-ce4df550f1bb CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9611d1c7-811f-4b90-8f3a-73b1a658f422 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7fead6d-fe5c-495c-9173-c7d4bf816e9e CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdb157a-f8a7-4d35-945b-e011e1f3f09c CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db1e023f-323d-47cc-9a37-2706789196be CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796f536d-0e4c-4d8a-98b4-7edb4765b324 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e53c1b33-4e05-4605-9ff0-88532084cad7 CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea29461-40e2-42cf-abb6-fe8cd4f461d2 CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7d04816-fcbf-4c88-8ee3-94f4b1fb1204 CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfcc79f-4977-4f68-9d8f-b6bce73c8d8d CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea0f2212-b4c3-491b-b505-5974ba8e5325 CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05224b53-da4b-4495-8f4f-7b238dd5e2cb CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cbd9efe-b4ad-4663-ad7a-5910c8ecd00c CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facc9051-d212-47c0-9702-9d2110b0aaac CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13fb4e59-7815-482c-8c8b-7c87c369eacc CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d840bb3c-32ca-4d3c-8421-25ba19cdd418 CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b74ffd35-85be-43b1-8ce0-159d85c980ab CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc98efc-16a2-4380-a9a3-88b7572de5aa CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8e2d685-d24e-4e67-a325-77297625c35a CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdc1c29-5056-4505-8d44-11f78b90dda8 CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea2b09f0-1ba9-4ee1-9e3b-5c1afabe37b4 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5375393-2666-40d2-a9d6-9c0cb47e2d89 CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a0fd9b3-c43d-46c2-9f7d-f66daed61add CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab2b402-c6d0-4f82-8610-63b80d1ea31b CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8b1f41d-b02a-479e-ab1f-d51b3ad89e1d CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23573958-59be-422d-926c-08942f617284 CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8792b053-8971-4fe2-8887-5be668d92210 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802b06a6-fcd1-4512-9354-2ed7691ffc8e CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b1c52d2-7622-4ea1-bc85-5fd88e92f741 CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678f65b1-9285-4695-9504-416e4c735559 CLINVAR:2035147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91a3c06e-7854-4132-8cd5-d81779c66688 CLINVAR:2035147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb5d244-cdab-4fed-9336-0f18d761b977 CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e5a0184-7833-411c-9a45-d469be66ee89 CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890b8690-0fe5-4a1a-b672-abcc3d778967 CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14805774-504a-4c35-bc59-f82b68a6de3a CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b945bb7-7992-431d-a903-6dfe2cef7f07 CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4173da60-0d4e-4537-b31f-df1a8af7b4df CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223f14d6-85b5-472e-9056-a7a00eae35b3 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c38174fb-5291-42ab-8443-f49337c8c2e3 CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531c7f90-70ed-4964-a428-4ab63decf8df CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3489c54e-60c4-4845-b692-22fcffa78f92 CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de0f59b-5e92-43ca-beca-26481e284501 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0bfe65b-32fc-4374-9ac8-2e1b30c2f845 CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c346aa-7e97-49f3-9cf2-2d674ac90df7 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f106f41e-9756-4fa3-8968-e43a31b3887d CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ef8d33-2601-44d7-8846-7a87a3b3dce4 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aa69c71-1255-42b8-ad4e-1aead7a1791d CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1997e33b-5a40-4787-8ec1-3d0016350340 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b4f9d24-92f4-4c7c-896a-1b4780f1e1fc CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9826c4b7-5afc-4ef5-abdd-b41454804e24 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87524ad6-73cc-483e-a18f-01eaa8f3a344 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5070226-3726-4174-9dad-055ca7dd06f7 CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3be2150-b7a4-43e6-9f43-0716671f9dfc CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24cc0010-8e0f-4c8c-91de-43f54554f897 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b7e6b6c-1741-498f-ab64-3e4e0f5c01f0 CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c215e0dc-3b72-4a34-b130-b0e8dfb23cda CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c653085-6106-49da-819d-040eb381e360 CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c1dea6-eb85-42e3-86c2-a5f84f8e8c90 CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9caca470-58f3-4a2e-8c04-ee2d734de980 CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69acafe-3bbf-458a-ba09-5f7ba3cd531a CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37beda3d-dff7-4553-a0ea-453046e2b82b CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1691ff80-a6f1-4f29-90b2-57b93c73f326 CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06686ecc-c16b-4848-8fd0-37035eb9b09f CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1079c108-3f33-4d8c-a835-960218989446 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16a4d546-67cd-4f99-aebc-a1f937167300 CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83937bed-51f4-40ed-b244-7850fce566c0 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d0a2e5c-3772-47f9-8f87-03c9591f8654 CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6500307-b952-4629-99eb-a2e873fd176b CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9f8df5f-5270-4577-a3d0-9157b09ea1f9 CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3b68b8-0a57-4c03-88ee-ffddf6c6903d CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bc52d33-27ac-4748-b29e-e9474e34c503 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d9d3f7-9d95-4d34-9701-eb854b21f5c4 CLINVAR:2633656 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 133322b9-c9e4-4f6d-a7e0-d3f11bbfdcad CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861a3171-affd-4355-8886-70e5615e4a0c CLINVAR:2443682 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf1885ee-1c5a-4980-aa26-fe3037f1674f CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d09a35-a363-4ed3-b79f-a6e3cf90ff98 CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57b38dc7-2c5f-4654-bfce-a96de5c6c220 CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de24c95-3668-4bcb-a141-b9eca483d936 CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a24508e3-4c03-4e06-9b41-1d4bd63e96d4 CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d87c64-cc04-4e24-9ad9-48d95385907a CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41dd9e81-6f70-4303-a833-52f4aeea215a CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7509d86-e271-4d90-ac8a-2750a3d81609 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32993c04-3a9b-4edb-9687-dbec0ea4f3fd CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec89c640-d0db-46f3-b907-786337237d69 CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79501d16-0863-4de8-95c0-b3646eaa926a CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6af54a-5bf1-45fd-a3fc-fd2c94a23ca8 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e38127f-031e-4835-94df-c1eb42168674 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a805721-5a12-4c3f-98da-5ae2808d16fd CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 308d404e-e1c8-4bae-9d01-ac96a468e882 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f45ada-e1d7-49b4-ab45-ae9e58d9de4e CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405cfbda-96fd-4594-a0fc-8dead85208be CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7667163d-6185-48fe-ad77-92477e1bd88c CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5ecdd11-ef60-4f2f-986a-7852d778ba7b CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5ac9af-98a8-4005-b406-4e6c6b477ac5 CLINVAR:1466051 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09dbea41-5f73-45e3-8180-af390ce30db1 CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c41751-1ddc-4593-b036-8911cd8b6a10 CLINVAR:856798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78587dae-3c91-4bf5-bbfb-537f3e512617 CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d3b3a0-6e74-4b15-937b-4a4779aaef26 CLINVAR:1684391 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42101f8d-4af8-4d6a-8e08-dc7029d9ff1d CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2e88b0-6779-41c3-92ef-37f7b01af5fb CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90036a9e-b91a-45e1-b3db-514da548f9f0 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f61ddf-d129-4dc4-a9b4-c7fcd2b3da5e CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3722d7e-64ae-4030-a345-600eadb0dbab CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9286bb-bbd0-4095-9f89-4a77e15be75b CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c2e3c04-438a-4d0e-bde5-fcb3dff53dce CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172aaadf-2c86-4cf9-8b1a-f10d1515a15c CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a17fc61-2417-4424-a420-0786613f8371 CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c38b7a-9db6-429c-a330-4830925e51aa CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 690263ba-4958-4d88-a26f-4bc9571701ad CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968a8b11-4251-4b8e-a655-6ba90148c260 CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb93647-1894-4447-943e-8aa2c7c90afe CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a8fcc7-30d1-4d58-a1b6-4ef9a22cf279 CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f4dfa84-a440-41b7-a541-0f23bd152bf6 CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fdc644-9a7c-475a-b699-76969bfde1bb CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 251f3ae2-e13c-45e5-84c8-b1f10a8f704c CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd865e4-baa1-4c32-8890-39d01c91debe CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 616cebed-c60c-40c3-9603-0d75acd9a84f CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab43903-7b21-46eb-b578-3f957752fa76 CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7eef96a3-42b7-48f8-9c46-7b4479c9378f CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59638323-dbf0-4c6b-b7b8-cae04a552398 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6b61fec-e0b8-46d9-8c56-ffafabd00859 CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197e97b0-97fd-4dd6-9624-2b7a34ad3dae CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71e90cd3-1f00-41aa-9d2c-02c84e30f93a CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26b2967-ea03-49e7-9882-16922d04e314 CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772ed866-3c01-4892-aa66-1a44d67f7aa3 CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6cb71d-3ca8-4724-bc23-8183f50a0c92 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0476b24b-2cd1-4212-8274-2e534ca3cfbc CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4093794-05d0-4865-976d-20846418da11 CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fbbafdb-c9d8-4d52-a81e-1bba52f63842 CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79dd2ce8-f0f8-412f-9609-f97b21548484 CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f73e0629-1c57-43b5-826b-bcb86b2a72f3 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68a64d1-95f2-4574-a4f8-d4f8a71c86cc CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ce32a23-ea1e-47c5-ae52-2819989d60d7 CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045ec95b-7d1b-4165-9efc-330cd209a487 CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a60fdfe-dad6-479f-ad7f-7570a3811bac CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ad0a32-5d5d-47b6-be64-5c4002a9323f CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ffd65c9-014e-4675-8601-8e1c2bc2c9d1 CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b077473-5dd0-443e-929a-0ba53b2dd2cf CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d21b63f-11aa-4442-b1bb-05b8e70f5f6f CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ce5f81-9008-44ea-a294-23620277fecb CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c12a090a-eef2-4d1a-9017-4914f07feb5a CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3523f0ac-189f-40b1-9aa9-e06f25cc169e CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3621b09-399d-4fbd-b141-9c73980c923f CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a033d9-baf7-4d75-9e9d-e45bf5d8b1ad CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b34e1cde-7a7a-4dcf-9d50-ede973c605c1 CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6a63ed-fc12-4459-bdfa-aa3e15f7978e CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12b9d4d8-d923-4c52-92d1-81e6ba738316 CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86be622b-e070-4c30-b052-af32c05451a9 CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ac50c9f-88a0-4494-8805-795739615bce CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b57c866-883a-4202-a33c-8a540e1bcd3a CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2574caf-db40-4e36-b8bd-9f30573af93b CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aabee50-f46f-4924-8351-722958d47df8 CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc225d7-3443-482a-a9f1-37f3ef7e67c9 CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50772cf-0d7e-4a5f-81a5-355edf2f77e5 CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85ff6b65-1ef7-4e7d-b431-1a036b126100 CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaad0b1a-99d7-4f61-a9de-938c64e1a0c1 CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5092ef28-0def-4914-b19a-64d5c243e2d7 CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c7fadc-ea52-4c26-86ce-4d1776f4a819 CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acd0b707-8d84-4aaa-a8a8-951f3963118f CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e0e2e6-327f-4aa7-b747-6d5adc9e9232 CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613d20ed-b4e7-4f12-9419-c80f67107afd CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f42234-33b5-401e-8b52-dfae4fd70141 CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c146dc6-01ed-4887-ab44-5f9218e17842 CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79fefa0e-af9f-4bdd-bd56-9a838df572b2 CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 222cc9a0-f8b5-47b4-99d0-c4ffccd9ade6 CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ee669d-8640-417c-8f21-947adef962c7 CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ef82c50-b2fd-4723-ab21-9e46ef0cce36 CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690185d3-944e-4952-991e-a5549e0d7a2d CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97173972-7052-471a-9b3c-ca09fd6a1af8 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dadfb81-d1e2-4862-b80a-71b6761297e0 CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09a42193-b242-4f81-88b4-b72686bb0949 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe5c582-7f82-4825-ac0e-dbd33d845eb2 CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef55473f-a127-4c38-aecc-6e2aa6810893 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a823e41-59a9-4281-8a62-e559013a6bbc CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06bb7aae-1720-4b85-9792-b32ff66e6b09 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5e2036-a936-45bc-a324-076cd1ea5daf CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc1f550d-3e95-4702-b7aa-cb4d307aa841 CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72bc6e60-a4f6-4168-b5af-0a79281ffe2d CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e33e55e0-0428-4ec2-80e3-af402cc8b3e4 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19699c63-7dbc-487c-8d58-230a45656949 CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84012864-b054-4f05-b83d-b4668f6ee57d CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 188f884c-5951-43d8-b183-622eac941611 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 069f29c5-d560-471e-ace4-ed7b343be9ed CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9f271f-8c71-4dcb-9c1c-ba5d55297fa9 CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd42d198-9629-4112-84a5-c9b985048f2c CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b34fd83-74f4-483c-a344-e4835ccf1adb CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 538e2d56-8b86-4bae-bcae-82f6923a6f50 CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6621e1-af89-4752-8e3d-1979ffbfedde CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ad9926f-58d9-45ce-a261-387e1f89b8f7 CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743797a9-c78d-41a7-a5c4-b402bc75d314 CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15fd3368-7e38-4578-ad93-057476660988 CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005b999e-20ca-4bfc-a969-8acb7cbfd25e CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a3559b1-7525-4bc6-bd99-09d4e647f472 CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c096dc7e-723c-4cc1-aa3a-1423e3163062 CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5740e933-8e76-4fba-acb2-a23d303536a7 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4616614e-855c-4008-b92c-1c398182c690 CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9478239f-b5da-4f8b-8cb2-126b1c80473f CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7462b83-ee08-46e9-8d05-38bb3a3a76a6 CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48c9e14a-c31a-4c7b-af2f-023d44e5a03a CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbf8dca-631c-4b09-975c-69cd34cea14b CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0007d6a-c4dd-48b4-b092-4741b9bcddfb CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b539cbe-f1e9-420b-973a-53354bfc5261 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 266642ab-4347-4ae3-990e-4bdf44ffe623 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771baf3a-9ccf-4a74-a537-b98a4d8c8ed2 CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3093a58-2789-4b1c-ac6a-4f0c24e5aff6 CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b93d465-abb7-4647-ba66-85c2e87af573 CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f01dd1ad-44e7-4445-92cd-799a23b4a50d CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a8adb8-05c4-426a-adef-d2095f15e5e9 CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c99e25-3dfe-4f18-a34d-6118c395c4ed CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02466a7-58b2-4e69-86a6-4b5b70abaa82 CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f4af4e8-5ba4-4553-9531-e3e160a028a6 CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce40564-09ef-4485-bebd-800f72d51d46 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6418fe14-567e-4532-929f-a748ed2a9a8c CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c5d718-d223-43e3-bc18-a1a97c23a22c CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d14e8a62-ad85-495c-bc95-67cc4cc5e91e CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba11bed4-3c69-4fbb-8b66-db5b66f1893b CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c23cc655-44c8-4210-808e-7e9f4194e9d1 CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9e2586-6b9f-4354-936d-22194773c29d CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd155d18-fd8d-4dcb-8d5e-1ea2de507897 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fd311f-b5c6-45f5-b0c5-a21a3d21ed5f CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3917fa7e-457d-4358-a72b-45c0c85cf1ea CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8071eb7-ba9c-4a46-b1f2-f88ab1e364c0 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fdf19b5-6608-4e01-a0db-053e0b10dc99 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40371347-2263-4533-87c8-8c61d7ab9c92 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25e610d3-a8d1-43e4-be6b-60a78aed1e82 CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af85d38-52f1-4e47-a5d2-e0445f3586b0 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb381b3f-91aa-4ca9-9b9e-b1ae014d745e CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b670a0f-6943-4fb6-9886-7bb4571a81a7 CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12eb2538-1528-480d-ba12-1c4fcb07c820 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60039158-748a-4c3f-bf8b-85b3f28a36d7 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a2c4d7f-e9a8-4acf-a18b-c9c2cff42c20 CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db18b609-5418-42c3-bc57-70740968d7e9 CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc44305f-4545-4f83-9d31-565c5ef4b25b CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4b72cf-0cab-4269-8cf9-a671da79ba8a CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6293c3cc-aa3d-4e82-8b14-f4db8938823f CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 392d1cc1-bde0-44fd-957f-74fd40764772 CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33210bd3-91f3-478f-bb97-114e2b5e5fbd CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272fcf16-16fc-44ec-8922-5262e5f3d84a CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ad4ced9-31ae-46a7-a498-fd6fdd7ef69b CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d918dc5-b8ee-46ae-9f5e-3973c76c264b CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7133cb6-75c5-4e7c-b70f-74edcef5cb60 CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830a2e7d-be98-4c88-9ee7-f1e5f55aeda9 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdd98a44-c683-441b-9f43-eac6baecd7f6 CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b23510d-6eb6-41db-975e-18c5169dbbb6 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c8a7163-952e-439b-95f1-ec8aa65197dd CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e2c0f0-1680-4b05-a65e-f36e3b689266 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d34e6b4c-0099-47b4-b4da-cc0fd4c038ed CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4700c946-196d-43ab-a84d-5bc15304993e CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fef5179-6608-4a83-a0fd-f2492f7ecbb2 CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ebdb91-952c-4148-bfd7-a65f836b7dc5 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bd0a2bc-6fd4-4885-bc7f-3c8b09be2f07 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015ce794-1919-45b7-b688-e36976a41f94 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7baeff74-cb2b-456b-bfbc-aa8effa7885e CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7b3001-8488-42ac-a217-f8f845d64fb0 CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d25838-2467-4d93-bb6a-9e8a4662c3b5 CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1814eb-cfa2-4791-bd74-5e3a94b2c6ab CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 445bf8d3-dd1f-42d9-a8be-55bf2d9897cb CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8cb6e0b-7745-48b2-9452-2faba8462af4 CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a87750dd-4caf-41e5-b355-22964bcf5ba2 CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5f3d28-2df4-401b-846a-05571fd546fa CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8411daef-f25b-4767-9c84-a752c317a553 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ea821f-579a-45c0-b044-7b0af370e867 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d122e99e-1894-4866-bd15-e33979ff38bf CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfa70e5-1719-4aa9-bee6-5da14d44fea1 CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a13c70-318b-478f-8fac-2443f8357d24 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ab0bf1-8e86-4adf-bef4-272d9c6b7425 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b46e15e-ef6b-4ce4-bd42-0f2c3da281ad CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28130373-fbb9-4cf0-9e84-3cb7eb645c80 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cbe35ad-a10d-4117-941f-93014551bc24 CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4af03a-1081-4b9d-b232-3105e0ee04ae CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97f9e79a-0859-4d63-a03a-248fde574b45 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86faa57-bc06-4e0a-b217-78284856789d CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cc4fc98-5481-4d31-818c-9be10e1d504d CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0033ca85-c032-48d4-ac44-c722dc35483a CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 773df3c9-e670-46aa-8949-965d16753593 CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321b24df-5edf-4129-9e7b-5bf7e3086d9e CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1548a3da-8b82-475b-99cf-a04ee606e944 CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7e4311-ba3e-4e98-a578-a50af5a9d1af CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c74a0bc8-cfe4-4985-9de9-19153fb4e4ef CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cb4ef9-fffe-4114-9bf1-11bdc20cf5ec CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5064066d-dce6-47ac-96fc-fc2499d970e5 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa96dc3-b940-4ca0-b8e4-1d7a8f8576c3 CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a802259d-d84c-4347-8a86-bdd1ba6d2d5f CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c6fc1a-1ce8-4758-bcb1-badf044b380a CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 082c9778-8c24-464a-bc13-2a8508fabbe8 CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2803a991-06b6-4823-8394-0aa7da38a35b CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c013fc8-cd8e-4f8c-9d6f-d731110e78cd CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a13d445-9474-4a1c-a5fd-2e99315604b6 CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93018989-e429-4f2f-a214-4c70854d6b72 CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67043bce-95a3-4b45-9ced-12a91f442b51 CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc1d8a77-2d14-49b7-bf9b-042b0fdc7677 CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c48d4de-9889-45ff-95a1-f7f4e2aaa22f CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e7dad7f-02da-47d2-a33e-2855412fe54b CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bc9664-4189-4550-bb79-afe0bd3aa244 CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38a58700-2fd0-4c03-bc1f-a99500023f79 CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b39ab14-7f71-4d87-8979-04c292903ca5 CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d075aef8-d169-41f3-829f-32b0afeaa572 CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9f2813-cbef-49a3-8b6b-7f56735e98be CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32be5d84-8d41-468d-bb7a-3c9d612fe3c2 CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300b688c-4c26-4a13-9fd1-e278616c8c54 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 512004b3-4068-406c-a68e-df8cc5ffac43 CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cf1270-e41d-46c9-9fef-22655c29fbf0 CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fd894d4-aa3b-4858-a619-5c8d57c7fd58 CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238d943e-17be-4e72-92a9-040411981033 CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a6e60f7-e691-4cdc-a4d0-85f208c93387 CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67a40e1-7e12-4bf4-afea-0544bde8752b CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33aaca93-55b4-41a4-86f7-fba7be20929e CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120f5dc9-9e2c-492e-bc8a-c7ac74480e75 CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea844bf-1872-474c-92ee-eb5b1433d610 CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc375f9-e7c9-4d8a-962d-dc0ed56ea29d CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 222e9319-19d0-4232-9250-2e5f44dd2a91 CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c845c59c-68f5-41f6-84a6-d35ef93c57bf CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5b9b931-3556-47d6-a626-0053e4449d0a CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2397b4-b14b-4c44-9158-1355781e11ae CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 116c52c0-c221-4567-8f1f-9232583252b9 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f070ebd-a6a8-4a0c-8755-efb826ef397e CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1668d42-9f3c-4392-97a0-85a9e80b918d CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae5c847-26db-4fea-a3b3-ee18ffc0e68b CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d2cdff-2c8d-47a3-a21a-ec5dd303e37c CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9189dd4-9ea9-46a0-a27c-f29a7c78b283 CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eda001a2-458f-4c7e-ad27-a986a8618a65 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1becc59-23b5-44f1-8a41-7f394a90b2d9 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fe9960d-2301-46c5-91ce-78a83b745a6c CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda7b09a-b61f-4d68-80dc-1df690294d7a CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 702f6654-90c8-415c-b552-f500ba1eb877 CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db47ab6-5480-4bf4-b0d4-932545648555 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1137721-2a54-4398-b5f1-26d41a35114f CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541c393e-f096-431d-b3dd-734a4cfe131d CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c429679-c5fe-4a3b-956e-623bd3b1731a CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3e487e-e5fe-4058-a201-fe46c804641d CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5b501f8-6edc-43b8-a50f-3652a963fdc0 CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f45e04-08d3-4cc8-afe0-3b05cbf05ee3 CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 709bba45-f9bd-4360-8cde-d69a72b9935e CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09b8ded-2f50-4c81-b909-d695616061d7 CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ce2f12a-a838-4b02-9e2c-2a9e4925c13e CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d78aca0-9f4c-4cef-8fe6-df0bc3db66c7 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce22433-659f-4f53-8fc8-08f29fabe758 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a568af6-bb48-4b89-b642-4dee90d8840e CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 750a6b84-3c09-4ac0-b79d-e500969d8f7e CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8c598f-c93c-4d1b-9a4e-cbe999014098 CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a41b9e50-fbe8-4bb4-b341-95bbc94eaf49 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ab1d16-b94c-426c-94f5-56bfa12f2cf6 CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03fe5668-855c-4708-8413-b94583a2b90d CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfd5f24-2561-41bc-b26b-a4f1564cfb60 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55ba1fb7-2333-47bb-b0f9-02cc9dd8647d CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f9b0b5-f8e8-4864-ba85-f6691a47aca4 CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b979ba49-0228-49fc-9d90-a1ca03b01056 CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac2b675-b074-48ef-a870-7a44d3b1b2a5 CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e44fc7-37e1-4790-a951-9978d5ab50fc CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12db68c8-c889-4f31-ab3d-35aa36bfb527 CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a18af52-b078-47c3-9ac3-b0ea5e6385cd CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e60fe5-c6cd-40a7-9b38-8cff25e3a91f CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74a028f7-420f-4369-9ce7-eb0ea4830193 CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2cff1c9-e475-47a2-9402-da48a9db1262 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f82e770-9c81-487c-9334-cb350af481c0 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0a923f-86b8-4d1f-a7bd-1e9ea45974fa CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 880f3ab0-02b3-4c06-81ef-e96bfdab7513 CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59242393-04f1-4ea8-957b-cd87fdd81c86 CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1255b44d-3c28-4377-b310-f31e2012d451 CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f749af-4493-43e7-a902-692d7b8b49e5 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b254578-cc48-43f3-b33c-a3c743eb915e CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6bb96e-5467-4000-a64a-fc90dd1419e7 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5427a78d-d633-41f0-b760-e5f9322db05d CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a14ad23-490a-4fd5-861b-7a37c2f1a4b9 CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1895e39-ed5a-4886-af82-5338a6087f10 CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee003678-7208-4e70-b6bb-a5d284232235 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97b1cd28-44c0-42da-9bb5-2a30479fca93 CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23df3e4f-dd39-47a3-a1e5-06ec9c8cd146 CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 602123bd-38eb-43b4-9f4d-a0ca80eca6b3 CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0823e6-10a6-46cf-b17f-19d24b4be327 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0afdb8c5-9c80-4929-8d1a-57d2c37fd98b CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c174bc8-bfcd-4af0-9493-37c0e3f269be CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e59e06b-290c-4318-b746-2ffbb86dc2fd CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee16d31-9ac5-49b7-acec-0495363e3d23 CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 502b1a38-f59a-46bf-a17d-f431fd63aa51 CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e495075-a6be-4265-bf51-24cc93f07697 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce33512-3b5f-47f1-a25b-89a296414106 CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeb7345-23c1-40a1-b60e-80c673fba209 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97897e0f-7e5f-49be-a85d-997908442124 CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90355e96-79cc-44e7-82a2-6a53cf8a2d1b CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a19195ea-0267-4b20-9963-f04a0cfa22f2 CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea8ada1-1944-4546-a561-2d9d0dce6b52 CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e551afff-a8d7-4681-b3b0-e75671e82747 CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d956e46-cd92-46d9-900c-8df8a179e983 CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9df94ff5-30e2-4e94-b391-faafd6d5ab51 CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fcaa6ce-7a92-4903-a2e6-55c29c15e249 CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec90c0c5-059d-48d2-8d8b-3b2073126fcd CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6b2639-c82f-4370-a385-0e9957a80430 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22076859-bf27-43b9-8f97-997c18a23f59 CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123867f5-df44-4fef-a6b2-2cbb724b0b80 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92bb5e61-7465-4506-8833-a2e567b7cd1d CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299a4cfa-11db-4e11-9ecd-f438064a3b19 CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 886b74f8-8a28-4696-a6ac-c13a861d1348 CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5699b492-4741-4289-88e4-7f0c3f0c3156 CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01cba84a-8efa-4902-a2ed-57b59d1f3008 CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e916e2-83b5-4528-8459-fc715a7d270d CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4eee1bb-a6dc-482c-b518-faf537f039cb CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62651d39-ed29-4cdf-a593-e3e654723999 CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4359d4f-346b-4720-a67e-6391b433b7d2 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1c2cf7-cb48-4703-87e2-2178af7a7b10 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 830e8d27-7aa2-4bbb-8aef-f680a5337052 CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8bd4a0-a373-49a3-9d57-03d32c203d0f CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5168958f-bbc7-488d-99c7-2dd16892bd51 CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1949d3-3f4b-419b-ad5b-9ad6d1534c4d CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d7415e0-18cf-465b-8f4a-4f67a166dd46 CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbed9f0-be1f-413c-a19e-35f73e6da14e CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6905e8c-fd40-4f39-9884-a1e13d728a34 CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9472213a-379b-437a-8c37-b93fc8acc1af CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7660101a-0579-47d1-bde3-ae09a8d72205 CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73560228-96ad-43af-af18-c36c9e087cff CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d040f4b-28af-465a-8015-48c560fa0d45 CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc99a0f-fa6d-4f2f-a8b7-ef41d43aeed5 CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2dfd8add-bcfd-4753-8f1a-29bbed0f2f68 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e071dd-0ce5-45ab-b5be-90245e64852b CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c78f6356-ee3b-48a1-8425-920682031640 CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846d23c3-b42c-4618-859b-90c6c65e9079 CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80a29a24-0c1c-4cfc-8609-6ec645f7d80b CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b89de61-579c-4c14-a600-303415b0b811 CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8555cb0e-9aca-4ea7-8975-46bc7ad63020 CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdd9e6c-e4b1-45ab-9cdc-21a9358896db CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4374938-43ac-4c6a-8658-83c03f3ade9d CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296f436b-2ad1-41d0-a620-7a8432b98ae3 CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8159d748-f1a3-4cc3-ae54-92c37601a1fb CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed088c2-4fea-48bd-9318-b3044e5845fd CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94ab96e1-0a49-4592-b61f-788a23a57fb9 CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a7b685-af8e-44a6-b6f1-546dad6d4785 CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bac2b7f-41de-46a9-b50d-e6ee05d59bdf CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0924fd1-604f-467b-8675-c3e8c592bc30 CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ef3e3c8-6fc0-4894-9038-ca8a54fa0145 CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f81aed-d563-433d-98a0-b8860b286eaa CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31892101-b5e9-41bf-ab0d-0611a55a5c80 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbd13af-414c-49dc-9def-a7288759f056 CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 296694d7-4315-4130-8436-c14836f2c10d CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b66dc6dd-9da7-41c5-a84d-e1183f51999a CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc1096e8-d43e-46b2-9376-dc0c41a005f1 CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef9eb8a-15bc-45c8-b4cd-48550c4d71b9 CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3738e3a-b059-488d-a7cd-e20dd2c4760c CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c65f91-615a-4620-8d46-abf0520909da CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 560496c7-6291-421b-a38a-4013635e8153 CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb0e988-6f3d-4c51-9408-22a978ab377d CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e48593da-3225-4366-b28b-ca8ff8f524cf CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1661532d-5291-4e2a-a650-138b4beb58ba CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c25ff532-dc61-4fcb-bed3-59a0e47985df CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e399b5c4-6fb3-464b-9efe-ab70ed2cb5e6 CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78c575c6-6a6f-4077-9d08-7c740d18fdfc CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab748cc-e3cc-41b0-b1f7-a903bbd307e1 CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e81d6975-589d-4c53-bca8-28bc31ff65c7 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a53b96-980b-4d10-b530-0f5f3608b272 CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47973ab7-d7ff-4782-a470-f70b5cb8a55d CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a948c4da-1edf-4e06-add2-c4309f625b71 CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49a1aab7-c3dc-4285-bf10-f511a0bec33c CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66693de-9b6f-4ce7-9a4e-430847f243c9 CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd125eca-aeb8-45d1-9d32-f612b98add64 CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d785855f-f938-4882-ad37-304cd658249b CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 240404a3-f679-45d9-9e60-a4d438cd9ad8 CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6466f15-f9e3-45d6-9a13-48d906e92875 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6f81e00-a2c3-49e6-b44f-f2ec6672c0b3 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c14b08a-e9ff-4504-a2f7-260fe4e89cf0 CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f48dc5b-b28a-4c31-9079-238ee3ca45e5 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027e168c-7a41-4134-a323-b318e1d4f9e9 CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2dd6a2f-8fe3-455a-bcea-d26c023606a3 CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f070366c-2819-4718-bdd5-adf629309568 CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1afedbe-203a-4243-bfa8-ad6717fe837b CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d215b9-c1b5-4b93-912f-017bf749195b CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b60f75d-0072-4203-af2a-efae687b2aa7 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d85627-f329-4c68-a1dc-e80d0f8f1cef CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7ad5572-2ebf-496f-aac9-6e6c68a76542 CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c30ef3-d08b-4032-9115-945ba0fd5776 CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96a92260-220f-406d-9724-05de4ff0c579 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b3ec1f-4833-4c5b-9a72-bf6f17a10888 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec84ab27-56ec-4a83-9a0b-f0278b47bc91 CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86545573-b596-4d49-aa02-7732d202a7f6 CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bee02ea-45f5-4d7b-8bf9-b61938286c67 CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33f12f7-6047-4a0d-ab41-a26a1234d3b1 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3db501f6-e792-476b-b28a-fc0988aa06a5 CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9975e3-17a9-413b-b27a-880b596a4e69 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8669e3f2-ecc4-49ef-8774-a67e94df6709 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2db7c40-2ac5-4625-b77f-8a86ace4532d CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b8d5777-ba98-4416-af7a-74c09754e289 CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d14c839-b436-408a-9ef2-4175880f326d CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cea29759-fa30-4dca-abf1-c3c01f05d4d4 CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7815cbf2-92d9-4930-a684-24f681a2d26b CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 653bf71b-26eb-4c01-a3cb-73ee1f491e04 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb771f4-1d9b-4848-b75a-b47345033b4b CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e089f3-d3c8-4610-84ec-e14b9cd15b74 CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93551a07-8701-4b92-a56c-05ba25cbe46d CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a1adccf-4605-4cbf-9b05-9ce72d0fa163 CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebdf965e-5a6d-4bb6-a306-55ac5ec59aac CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d4d69a9-fb9a-4c85-99cf-0e503bcf20c4 CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a9cdf6-f24e-469e-a23f-fde9bd626270 CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09802f68-8603-4ddf-a02d-b101cc238eb6 CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbeb5f5-65a6-4172-987d-822fcc186033 CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e60b5d5-19b6-43a1-94ad-38e0ca8059d7 CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6577a1da-5ac1-462c-8bb0-803ea2056b81 CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6870bb93-8b52-4800-b33c-acb9983a5d61 CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ed6d12-521b-4e21-aece-99f0370bdffa CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecf98da2-2751-443d-9b68-3ec3360d3606 CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d25119-7bf8-4b50-baf7-67512913aa13 CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f6c92d2-66c9-45d3-aa60-3852f3df6047 CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aef235c-b5bc-4d36-b214-74afd16d5e20 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63afc9cc-e35b-4c75-976c-41ef70c19281 CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e23136-0b3d-4295-ae1f-7f42fe10aae9 CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4851c4e3-7789-4770-9586-64f608562078 CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b849fde1-e389-4d9b-91b4-70f293ec8cbb CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5224f10-f78f-461b-b40c-8134973d9ead CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f168c9-95c4-4c8f-99f7-2eb8b52af687 CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 463bf962-459c-47e5-9b9d-88e1b621e630 CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56fbee39-d921-4a30-b2f7-d8daec7bdb9c CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4babf2d-36c7-459a-bb19-a8c0858f0962 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691149f9-0f82-401a-b488-ea4dc2fc3b87 CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c11fa7b-98d4-4599-8d3c-624609af2803 CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbf2215-d576-4714-a222-e848b1c9bd65 CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd927a1b-2c41-43b8-b4e7-3bf007e0d7f3 CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c8acc6-87f6-4e66-9fca-dc9aade41382 CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6c541c9-974e-457d-97cf-25fa75f426bb CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63414193-ef01-4cd3-a1e4-663e09d7f1c2 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bfc6888-b053-43bc-8ccd-afd407602a7a CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a856fd25-1297-4ff0-a8a2-ef443ab73d59 CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dae831b-5af7-4bac-9c89-f7510d58b02b CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50a024c-ed10-466d-b58d-4ffdac0e10c3 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bcc0d0d-019f-40d7-9d25-37fd4f733945 CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3780f6-c0ff-42cf-9ee0-ed5c3113398a CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b79f288-f33c-4129-b988-ca86412f22ca CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd76b88d-ee58-4aeb-827b-cea5a8e99690 CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cb0df35-7c13-4172-97ba-a16bfd869ae1 CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6d006a-977c-4f82-9e56-d192bb65e86f CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba1d22eb-953e-4bb4-ae6b-f8134ac414dc CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcb52d4-5256-47ed-88b8-6eff831cd21e CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f11a0009-e4b0-45cc-8f3b-b18de8e7cc47 CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca9167c-d96c-4edb-b271-ca206ff7d5ed CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b994a61-3f92-4f36-80f2-aab568822aea CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37595255-f299-4a4a-a8b3-47d05797c599 CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 750dfe85-410a-44f6-936b-85ca3789bb92 CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75525c38-56b6-4633-a800-35b5ab6438b8 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8895651-6ca7-42d8-8e7a-31beae9518df CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced541f5-9411-46c4-b85c-e8751ce86ac7 CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a92e06ef-5143-4cca-a44f-56f4d0f7b1bf CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e76fceb-9fac-436c-945f-8eca312d6639 CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8890df0e-453f-4562-9aef-fa6d8a574dec CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ad1759-7170-48c4-8ae8-f6dc1df95151 CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f57955a6-2132-4d38-a153-75a85915f0a6 CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6079e86c-f481-4a88-ad5a-5782681692be CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fbec5c4-7a3d-4c5e-bb1d-78b341adb709 CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dc4325-b912-421f-b260-05faaf4f9d03 CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84cadb23-c537-4e6d-9613-9f3e8ae560f7 CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe070ba-34ab-4b2b-91f8-d9578672133f CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 116193ed-d273-4c41-aa50-c30da9bb6ec3 CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31315c0d-07d4-424b-99a5-ab912ea33bdd CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d22a7c59-3b01-4fc7-b70b-c19833d58106 CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1267af-d9f4-4003-b8f3-59b821b7b7a0 CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a623ea3c-33f2-49ca-b786-7299bc409b8a CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d62fc33-90cd-4a57-bb94-d38df2856d59 CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aa4979f-ac23-48f1-8881-df700885fcda CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820d3301-95ac-4d89-931f-ce16a72cef16 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c2a822d-7a32-4b3e-8ce9-a1fd5242b7ff CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15431af7-fe3e-42dd-bbef-4f02b0b7519c CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4c24f29-0924-4850-b879-7a2cfd93d2f1 CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8099dd7-43c9-4f0a-9530-eaa0a007f11c CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc8d48d-891c-4ab5-9ba2-556a52e6c199 CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95be4a75-55fb-4bf2-b62e-501b2754023e CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4037622-aebf-4738-8aca-63691aee07bc CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ddc66a-0020-4367-ad0f-564788d5759a CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3bc8510-c4b3-441e-b426-dd5d25ed66b7 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd88da22-e1aa-4afa-8c3e-264acb3cd503 CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2fce659-fe92-499a-951e-8a60fae19b9c CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fd176a-cc9f-4a35-9c2a-25e08d1c84e2 CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afd5e75a-f450-4bb6-8d38-d6c993ab1595 CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab34cd91-bd3a-4f5a-af3e-6c3044bb4fcc CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02460105-9887-440b-8ee6-076a1f533016 CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf9ffb3-b652-482e-a92d-d24b03817581 CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 448fb399-49f9-476a-9b46-1eff44ce3b04 CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabc40d1-11cc-441e-b52f-eabe01cca6b7 CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23c46e03-e123-46ac-a6b3-af38dabdbfca CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214faf21-0626-4838-99fa-2b51615c0165 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a489367f-8bb8-408f-8f0e-0492ef521018 CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e51566-643c-46f9-9cbc-59f7c8a4f0d2 CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 141df740-a7df-4510-a38a-089eb6e7a82c CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1030343-4608-45c9-a147-25961702cd88 CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db8f9a49-0611-4abe-bb80-fee7451fd784 CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012a87f8-5b6a-40e2-bcfe-cf7f8917bd3d CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9748b89-73fc-44e9-b6a6-efa9e1d55a09 CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b138dbeb-f36f-43c8-bb8d-b31ba10212e6 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a016620c-b652-4aa9-825b-bc3999fbb01e CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77aa01c-1955-4a6d-b6dc-bacdfd40dbd9 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c262e9b9-a6cc-4846-9227-706681c68ce1 CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d492235-df56-4ae1-9d17-a2a753010fba CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1fa2484-5291-4ddf-806e-e545da63dab4 CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44fbba9-d6f3-40cc-ab2b-9608f3e5ec51 CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81f06bf4-0c40-4578-aacc-191c604149b1 CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fc62cf-9a91-471d-a43c-b6eaca5a69a4 CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b85ed70-2fd8-41b3-a5b8-6241cef14490 CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f3b917-e8a3-4340-97fe-4c1ade2cd766 CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b35a09aa-f7ec-40d7-b57f-a8e68ac3b0bf CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52c7a130-0b46-401c-bde3-c04997b88397 CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b621d5eb-eb4c-432e-a465-3b3362a1c93a CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8fbe28-7f25-46f1-beb9-730da19527ce CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfa487e0-5c3c-40d2-baaa-caee8531ed3d CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdac6511-df71-4275-83cf-529f16a51895 CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 261bb312-6b11-4d10-a69a-1bd6cca2b2df CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5dbf20-d0d6-4512-9e0d-142c0cb72f16 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 787c17e5-270b-4846-90d5-a57e65de7b22 CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbde05af-d96e-4de2-8aaa-3c093bce9b67 CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91b6f070-78a4-47a7-a7cb-2dacc5677ea8 CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f26a8d-188b-408c-9834-8e594c1fea03 CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f13aeb0-255b-4b76-978f-c2f7dca107a0 CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ca007b-1dab-4bea-89ae-bb70efe201d6 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17141ea3-a8a9-4ba4-8540-79c4acb66ab2 CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ba2752-e7f3-4f3e-91d9-d5bd5ef71ced CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fda8ae1f-738f-4e06-849c-8429c8728471 CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67286f28-86bd-4062-90a1-e94c3c97716c CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6b0b957-3a92-4660-8765-fcbd4240bb6e CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3b64ef-d9b1-43a5-be74-16f4feafca8e CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd3e31fe-d017-442e-837a-bfc1ec8ecef2 CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d76a27d-61e8-4357-b84d-eeda66732dbb CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8950089c-94c4-40c9-9d2e-ebbdff1fe4a5 CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15e4bbb-fb42-4745-8e2b-4392d60f74bb CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b38cfb5-08f5-49af-8129-06a165a907e1 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a5cb4be-f265-4388-8147-9694bdf012c6 CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3b428d5-10cc-498f-95e1-545cc9ff4b61 CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4710c1-a96d-48b8-ba32-1203b7f44b97 CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d57d6db-3d8d-4f5b-b587-48768570c11f CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c0f7ee-56b4-4d15-9343-191c7a045f44 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d03821e5-1c92-4fdf-bd68-8f058c804354 CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01899b2f-3975-433e-beda-7a90963dbdd1 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d701d029-3907-437b-86fa-b2c2cf23fa15 CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fb423a-1f75-4aea-8128-57521c9b53a7 CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eba24f5a-7190-4281-bdc2-43b9b6d1fbce CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e75b11a-160e-44a2-a976-0f0f240c0e7c CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5550187b-0054-41b8-9671-cf2968080f78 CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8f0286-041f-4f06-a36f-1330b3c8b327 CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7d7b2ef-cd44-482b-b25a-e9b1920240e8 CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c205da-ee04-43dd-9013-49eb4393b6db CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2f753e1-8cad-4e5d-b165-d72ae6a102cf CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d36e4e-d4b3-4060-afd4-ec5c6a4452b8 CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23f5e76b-85f0-43c2-ad21-78b4cf02ca98 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52bab76-89fc-4ef2-b910-a19362e3ea00 CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b4de2aa-fceb-40a8-95a6-31895ae70bd8 CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65db1958-5885-45fc-b5d9-4d0b820a0142 CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f0be2f5-eea5-4270-8bfb-fbf32f5c41f1 CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43adf6c5-52b0-465f-aeca-f5479c480d36 CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f6a37f7-1c68-41d7-8722-835ff19119ec CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eae5b5-01c1-4dbe-ac13-d5bd30b653f9 CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e990a2a-63f4-4a20-a1c7-b6ac49354962 CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd1cae6-6a05-4848-a05e-9e47e4feb9fb CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a680c60e-127d-4c91-9025-90874fa700b3 CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98b1faa-adb3-4bbe-8934-0b323c755d02 CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 094b0c24-73f4-429a-8ae2-1b6eabdec452 CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e481163f-f934-41da-a71b-ebe41ff70821 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ee0174d-05a5-4ccf-a7a3-57b5f883afb4 CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f02399a2-e06f-468d-b548-999cbd5b8fd1 CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada1a5da-1d56-41c0-89f5-a98ced03bccb CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d4167f-680f-421f-918d-35f2aea5c7a9 CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffe8ab22-c6c6-4d39-8594-6f0d5e26f54e CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03604215-ac05-4b9d-beb3-38190d8f3a20 CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf7bda22-9795-41d3-b437-21f5793cf136 CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288c8c7e-fe6e-4913-b00d-8cd99560173f CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afbcd493-ac27-4ab2-be0a-a091a698f3e7 CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b5d388-fb56-46d7-8277-8f092fa3a3dc CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4c3de00-2ab9-4bcc-b1b5-a0e528c57114 CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165eb2a4-d90c-4d98-9477-a12998512082 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bd3b346-8c15-42a8-b239-83ec8de01a54 CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944d6405-cb7f-414c-8b2c-6da852e4605a CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4e91899-d26b-499d-930b-dd8ff9346a37 CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d93f5d2-0ea6-4a22-8190-b9454a8c092e CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf82036-ba7e-4222-9b05-bc38336facd4 CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ca031b-9fce-4a78-8cfb-fce9b64ad701 CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0214bd50-37dd-4d04-8b82-e5bf6d9e0bd2 CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb0fbb-a164-46f6-90f0-53cca1fa45cb CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 609f64a0-000a-42fd-8b21-c8eaa91e0f7e CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67871f6b-8dd4-4571-9796-d66704dbd3e2 CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63d125e1-cbc4-4f30-b0ae-f1866fe7a987 CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5194c6dd-d197-4724-915b-312d2ff196ea CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6436d308-8333-443f-8f78-fda637623a8f CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0325ebe2-c7e0-46f8-acee-29fa2fa32695 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 374f1d4e-02aa-4b2f-b335-53fdd5890df6 CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11ec948-04c5-4a2b-95ee-96bc1ec527cd CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425c8362-bc60-4f89-b08e-9e24dd51eb21 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d74d72-aec6-426f-ac84-a0ab39a040af CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d4e6cd3-60c3-458d-b443-0fa59ae80219 CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c157fbd6-4087-4629-93b6-3920fcd93fa5 CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea57b711-568e-4b83-9f37-ba7a5aaf6d89 CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746bd8eb-a44b-40de-87e5-545d0a63c24d CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a411b26f-175f-4ddb-89aa-6669b6e41b40 CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478b971a-fbc3-4660-a19f-f5c0e3646f3e CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84fd20d2-acbd-4604-a891-c4fb81ec8a83 CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c634ad13-9094-4bc8-8f0a-2c269cfd272f CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 035e611d-4771-4d7c-9e24-a8ab8c9c6a8c CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59f41b5-e1b0-4274-8107-153ce9a585e0 CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b63f12a0-8618-4800-a93c-e132bd296706 CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7696bf15-0777-424d-a76b-f3ec941268ec CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb247327-2e4c-4950-98de-2c920c16784d CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb156009-8d3b-491e-b578-ff2018e42b8e CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7b506a0-a051-4e67-907e-ed838d3662a7 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad86937-6d52-467a-b687-e17abcf45504 CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 996d401f-db1a-4e99-96a7-eac50ef16cc9 CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6575a3af-1989-4b09-b897-fadf62e4ebb6 CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10b0bc8d-9219-425b-b9ee-32ad07f55fec CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e3b2d9-a786-4a76-aca1-b12201d62f72 CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd18dae-9e0d-4d99-b5c3-01d6f83f4038 CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdc54e3-6393-430b-bdc8-47ffb0e8df30 CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 951afe7c-8f3f-407d-a456-ea80893f1aa7 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155f6e49-2585-45a9-9eb5-60229168840a CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3a408e0-e8ea-43ad-9c84-226aacfc71f7 CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e59f7aa-9903-47a0-a9d4-4c4124167319 CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af954b8-d1f0-4742-8181-1b1c718b12e6 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a289cd18-5604-4ac7-aa7e-43fbc7fc39ee CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 635fe1b3-74ad-40b8-aba1-908f2fbaae1d CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d29a889-326e-41fb-9e8e-0039798025c2 CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20b587a8-655b-4205-a7bf-8731a16a1c06 CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6b82d9-5402-4f32-b103-8b79a841a992 CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b87a0208-8361-47a0-8d4a-e81355e9d730 CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04fb69d-6497-4226-a3e7-16f78ccec7bc CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 093ffab1-8c38-4fec-aa1c-1d3447bbeda0 CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d40510b-a068-42e9-af68-96d837ee2162 CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cb098a1-dd6c-4b92-915d-feee845107d5 CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b83a5930-0068-41a3-b4a9-f7dfccbfaba2 CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf797dd-a13d-4d50-96dd-ccdfa604bb9a CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c5814e-4bdb-4e3b-b9e5-c3ebdcc89350 CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a95b9e3-a5f1-4d4f-9a80-ad6fd2eea318 CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875ed963-a343-49d2-97cd-592aee63722c CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8678aadf-7efc-4c96-a83c-98aca9fb4cf5 CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77496009-7791-4f8f-8294-e7bd68afaf12 CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68847c35-4ab9-477d-ac55-7f4d3436287f CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bf4748-69cb-4903-853c-b8c738495087 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b1fd932-286c-41d9-9bc8-cc50abb81074 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863d25cb-5e79-42a6-8fc9-a5ffae7e015a CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ace894d-f346-4406-81ae-09f42c66710c CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98dcc72e-0bb9-4d24-9502-91ffcedfca39 CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fe325cc-8e4c-4988-beec-f774d600be6f CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1208f5a5-bffd-40bd-91fd-bc9570230b1b CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc8d9af-0249-4fe0-9fd8-c1cc75360d33 CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51aba529-66f5-4a80-9da4-ff3b58fac113 CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9e6d736-84cf-4fe9-bfb6-7d4b3cc5463a CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4eefd8-2c5a-488c-b6f4-3df03777c474 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 198693a1-cf79-44b0-b92b-557aa9441291 CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f284306-14df-4130-9e2f-4c493d6fa510 CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36ab5e46-16ef-4229-8e75-dd03d29f0cd2 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b791d9f7-80fa-4edd-8aaa-d31943d3645c CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d02daf6a-7b68-4c13-9820-437ba242332d CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b4b669-318a-4a0a-8d20-edf09052c1b3 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06ebb866-7c26-4026-bead-30bfb1fdb060 CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f05dbd-b10d-49a8-bfa6-58d9589b50a3 CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b98c9e2-5e57-4906-9fa6-ea21e678bea7 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c04747-704b-4215-afb5-c0d4186b04de CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edeb767b-bd80-4df4-98e1-055a8bb51fba CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4768109e-ce1c-467a-b434-ac9446c3450b CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c5562f-fb8c-4c2e-9649-84a1e48538b4 CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5bccb7-1e40-451a-bf6e-579b061b513c CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab01f77-f38c-4e5c-b55a-72e88f3bc6cf CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e396504-471e-4145-9446-4cd22cc73a2a CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6d4d0d-f9be-402c-a7e5-63cbb6fd85d5 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df48fbf6-0467-4f26-8d39-3686b37dac4e CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57c13cb7-f32d-4d4a-960e-0bdbbcb7a8b0 CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15afac27-45c7-40e9-9ab5-230677ce097c CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f14e2e5-061b-4659-8799-0b45f87c1258 CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d79c05-298a-4a8a-8539-6926f7a615cf CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0372d836-84f6-4d69-9c10-07f7444a3796 CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2bd1e8-ddcf-4e00-a305-b21aa8f042e8 CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9661d1f8-419a-4ef4-903a-a06fd1d93ffa CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e007c67a-9125-4c8e-ae3e-3158f3dc88e2 CLINVAR:3436409 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfd8e447-63d5-480e-97cc-6792028803ba CLINVAR:3436409 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c19a254-1454-4527-b220-a7d87a23041d CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae3f2fe1-19e7-4301-8b98-a1a984e1a267 CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91624aeb-9a35-4581-8e84-c960bb530982 CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52bb3324-b0f5-4e33-a0f2-a2bbbe10b7d8 CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dcdea7e-dd69-48c8-a8f3-f6fa3bcf542f CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e04a41f-7c0a-4bdd-b418-edfde5e978d4 CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10cd118-1943-477e-9e3c-aeb0189b9ca1 CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3da1a507-777c-4217-8dae-05092c005e65 CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214292be-f4aa-483e-929b-0b634382ee49 CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd2a5816-6f2d-4630-92da-85bb3c4abb7e CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1ae428-8c4f-44ea-96d2-da312dd82d5c CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b7265c6-0053-43e5-967c-2ac2031f1674 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93539714-4665-4bde-a10c-91d0417297ee CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4771ffc-f6ab-47d4-b9e6-da7356f2a972 CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cace34-7cbe-4b18-a0fe-917219b01a75 CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d77bc91b-fb03-4a60-a7ad-a97bb36fb4ef CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709ec2fa-4db4-4b6d-b9c7-496d122b2686 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0eafd4e-7a6a-419b-b48e-8ae36b69ebad CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a689eab-44e2-4afe-a441-f6ceaac7c567 CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75df9b73-f201-490f-8767-98ac11ed3582 CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a19305-125c-4559-8462-977c31782cd6 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64e647c3-51a9-478f-984a-10c7ca7aa883 CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b7fed5-7e70-44d1-a4f0-dd181fcb8eb8 CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a130a963-0b41-4c8c-bbcf-e8ebc4d9f0f1 CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb396168-f6ce-474a-b911-ce3bf85f2465 CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d35f721e-5de7-42a3-8686-e75b29b31cea CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bd845d-a020-43c8-8875-1ba18ca49082 CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01e105e5-2125-42f3-ae84-bd1a174b9165 CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3950ff91-aaed-48b5-9057-36afce6a463e CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d3c433e-3914-4383-939b-c19b7c5eec03 CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494ee07c-bc1f-4e5a-a210-41e98e60ae90 CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7381614a-a9b0-4081-8761-9ce919f2df30 CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8378da31-cba4-4c65-a1e7-87b7f6913616 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03516e19-9d33-48c3-b436-7b5fd05237aa CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4370e28-043d-40d0-bca9-8d2cb8ce3b48 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3e29832-1dba-48f2-a2be-b645357b2067 CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6fbe7a-467c-4acc-8bbe-26fa2f1a0172 CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f861e5fd-1837-46cd-882f-435823dfae29 CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4197838-e257-49a0-bf01-3cce34ec0d67 CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1938a771-04fb-4c7d-ad2d-7c006eda344b CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02fcfa5-55bd-4c1f-b0ba-9860147dcd35 CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21a28e32-9434-401f-aba3-a0ff98a45873 CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86293d04-186b-4bc9-89bb-cc4ce3ecb307 CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0739758-daff-4bd2-bdb8-f5f98142a251 CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11a29d0-d660-43c4-89de-e6e6a5cb5303 CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53b3f39e-7ba7-458a-b1f8-8162a5acb9e9 CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d73a44-d103-4a05-ba6d-f19e4bcdbb6b CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 180ea437-7624-46e9-ace2-3bffd0c7a220 CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a167943-f079-4d18-af9e-a64327d7f37f CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86011a57-7459-4505-bb5b-fd090d2ac320 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f53e7f-0501-461e-af22-f1ef8242fc7c CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 871fbf01-5925-44c7-b0f0-0077c01db76c CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc9c335-cd59-4507-b856-4356f6f3ce43 CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 491cc2b0-eeb8-4081-ac8f-9d05cc8d08ab CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60338a51-c7ee-4546-9fe1-6712d52330f6 CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 659e5a7b-1ea0-47ea-9d46-474ad703fe1c CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0573edaf-8a4e-4a55-8110-4f0853c5a21f CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47832715-2556-46ac-b42d-a019271591ff CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43227d1f-95aa-49c9-9e51-aa88393f2b20 CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a733d645-c085-4bf3-9201-8ac5f5b4d8d4 CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e7792e-158d-4e61-9a73-727ecb5e772b CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2aece337-6e5a-4474-bb43-0bb4433873a0 CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275c2167-ad0c-431b-b03a-d2c9ff095417 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dc013d7-b57e-4f13-9f5b-c82fdee6d886 CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1200d2-3ef3-42f9-889d-fa8d79a379c3 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30d7c51f-c94c-4517-aae9-c8f686492b5f CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5901ef49-91b4-436e-9a04-e37f31aedbdb CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbe544f0-7103-4759-b514-32b2c6df0035 CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5950dd1-69d7-40ca-8c39-7d01df681711 CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57def18-da47-4725-8762-10bfa298bc9d CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7d646c-3cfe-43c1-b3b7-dc1c9232638d CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e08d9285-ce4e-4f2d-8d7e-52f6a08cb60a CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2cbe9b-7624-448d-a232-faba1282ed82 CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7166558-42a8-4f78-b72c-9704e70446f3 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecc6777-54fd-498f-bd6c-064977cfcf9a CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57bdb9c7-015b-4d8c-ae03-fd0c73bcd911 CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6cf1b3-3b36-4ada-9050-33bd417e9eba CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5887f3c6-b06a-4373-a429-d1564b0c0d01 CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660c66e4-365e-4369-8745-aec666ceabcb CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 552de34f-6ddd-49c1-b392-ba354b481907 CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751c2357-83ca-4ca7-a178-68ce245f409f CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90cc49cf-aaa2-470e-92f5-c1a669f04977 CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cac622-de2e-4633-a321-02966c5b3ba8 CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94fb53ab-2356-4c62-8ff6-3b838c9ed88f CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002388e1-9e60-4eeb-a5b8-a8b435fbf94b CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e25882bc-3bdc-4278-8527-6077cf517480 CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071283de-2a68-446e-8a51-5c40ebaeecd9 CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc07a345-55e4-40e2-bbc5-2a22b4e4f775 CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a24992-f0d9-4aa2-b902-59569fa7e8e1 CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fa51744-b039-4c0f-9355-58f16c30f3eb CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c55d50-637b-4d70-aca7-8f4557e8839f CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e8985eb-fdf8-4ed8-a9c1-95a47141fc2d CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4682b9-fb03-4d22-aae6-b2409859a196 CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f2cfc06-20e7-4d1c-bbca-c4a445310d42 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c61482-be7d-4048-afa4-b051e921709e CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae1b9c06-fdd0-404e-b577-53e46ae78e52 CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb4e1e9-e26f-4c24-88eb-6c0adf134258 CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b20d075-8d1d-47f0-b94c-36a4c543309a CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2132e1-48b9-46d9-8b88-d267d49a5f45 CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edf60226-a896-4a00-865c-3bf2d29368bd CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03585ed3-757d-4b16-9239-4f714fcc3e9f CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b17fee2-9e70-43c6-96da-8bbfe464d987 CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3d0a07-cab6-4121-a4e4-60ce6f15ad84 CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b663dfbb-89eb-41dc-9bdb-6d5bdd603bb4 CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d2003b-7304-47f7-b7f4-7c6071092f76 CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36b9ad71-bbbf-4832-8522-638d65977d8c CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f62b9d-63d5-4b8f-b43e-efc642cf1d23 CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8f45fa6-6537-494a-8bbc-41fe525932f5 CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141daaae-453e-4f96-a1de-e4fd7c345555 CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e13d0cc-6322-439e-b044-b3ac190c0974 CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5cc4ae6-fbac-424e-ab60-ebeb4e2bc70d CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44b9d59f-9e35-4d0c-9835-3d0c79cf5acc CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14c1696-5b1b-45fc-b293-7ca6723dddd4 CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba7cf987-fe61-4110-89d0-0a16215f4797 CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a512b3-4099-46f1-9890-7f46868e201d CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4db63fdb-b2d4-4887-a177-87b931be0662 CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a940eb9-b222-405f-9516-9e9d2dc8afed CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cec404bd-abe0-4354-97e8-05a2d5af7e2f CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c449af-e9f7-4f03-acce-093cb99702c1 CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f73e9cd4-b1d0-4446-b817-5c30d7d54a47 CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28462d3-1c26-49b1-a43c-4fb5cf81c6d1 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 571b9f94-b7bf-44f1-a470-97fc51d57531 CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2033cfda-a679-405a-99f2-9a51296e7771 CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dac58f67-17f1-49e9-81e9-375d0b7253e5 CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5419111-ae8e-4eac-93c0-9c492744787c CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89c5348c-aba2-45f4-8ccd-84d79e6c23b5 CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fbc892-4ca3-4edc-a8e7-7aaf4c6c7005 CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a723b74d-4bc2-464a-895e-0d4cee32bc05 CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be611cf-ae9e-48fd-a995-d307313a16e9 CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe43a5cf-cb34-4fc4-8918-33e53ba2bca6 CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61ab0fb-5827-4184-b85d-6ee734bad273 CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27db7f75-01e5-47e0-93ef-cb66fec48178 CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de16f778-e2e4-4757-8a5a-e6c8fee5b7d2 CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54e8838b-5f31-4483-8bb0-d585f1a7c206 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15d81c4-31f1-4d39-bcfb-e26fe9ca3dfc CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d82d6f5-37b2-4843-ad36-db23ffd609f2 CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54caf356-6d4d-49d9-8c88-e5744d8cac91 CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03394701-2c72-4d6b-b46e-e7f179eb376a CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d043b59c-b660-4284-8bf7-2945b1c7a47c CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e3a7910-75cc-401d-b788-7f2284c73777 CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf94717-8242-463a-9897-8ee2b10a729c CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05709e17-23b7-47c3-ba37-8d3001069c0b CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfbee18-2ba0-465e-a90f-bbbc4a959a8e CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5914a1-c2b6-40ad-8f2d-5e0ae1c39769 CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce13284-c12b-4c76-b47f-8460d2a1e332 CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa7d1860-9cd3-4e87-8fae-8038f7ec1a47 CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f318a8b0-982c-4876-a1bb-fd435833a765 CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a97760-3ebf-4ec2-b9cd-81b264bdb9c1 CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de67b045-ad91-42b6-81f9-39bcbaa00a10 CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edc9ecbb-634b-4f45-824d-ea1f647a8efb CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdb2b1a-fbec-4858-b355-3c3ab0e2bf4c CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a626346-7045-43e0-9ddb-ae1dd40f1332 CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec2c7e4-18c9-4a1c-b402-579a2f55eb9e CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0689d902-e1a2-4813-8f33-f3966659668e CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa61bcc9-8cc7-4148-9519-6490d983a683 CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97738a39-636e-4d19-b738-295f73896a28 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e62718-6ff9-46ca-90bb-c03aa1f87af3 CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5383827b-2437-4f60-88c6-b62ae4a5c6e0 CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b33c6d-3270-4033-860f-9e3135ab5726 CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ada59ee0-9f58-400d-a34b-8d5e3aabda89 CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370dd156-160d-4aba-ab3f-80a58f7e1648 CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3db5f1e3-b6ce-4c60-91d6-3146f90d4917 CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1728e200-7957-4b5a-ad0c-630cdc23d0f9 CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8db5064-abbc-43f1-8842-6ef53dbd36e9 CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17201a79-bbfb-4acb-bea9-c207e77d28e6 CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dc049bf-214a-4158-98df-fc9220221d18 CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a2a9b0-9f82-427d-b00b-24005acac98e CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 578cff37-58dc-4871-9773-6df635adb455 CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417aa6bf-588e-4cb0-9a8d-66f418a49f3c CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa7297eb-2e5d-40af-925a-cbe583e73e4b CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5550016-3a03-49ac-984e-0a2926d64038 CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72705fd3-216f-47fc-9f2c-e2e4bdead598 CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a706385-c59e-4d4c-8fc7-e5655a4765b9 CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e8453af-1bed-47b5-bdfc-12373c4eedeb CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26c5206-68b4-4509-8d1d-d9a794a77eca CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1733275-9f9d-4d59-9ff4-dbf3be69ea97 CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110d8699-010e-4e5a-bb13-abb9414ba541 CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e9fdb1b-6fc8-43a0-8dd7-b2b86c715f36 CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719963fd-90c3-4a3c-8c13-9fac477d7c0c CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d309a64-d24d-4f45-acfd-76e3da802cdd CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bb76aa-5a7a-4975-b5ad-72504386839d CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a825875d-9ee0-4a4b-84e8-9afcf0bd2f53 CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc22355c-b1a0-4b99-8b50-c67050bd8bec CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc7a5de8-3927-4d9d-9106-887a63890223 CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07236735-a7ad-4c3a-bb96-cec115d92e32 CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f14a37dd-f588-43eb-b5fe-5a103f03ab3e CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fb8c85-c0bc-4b8f-b747-90b099b13169 CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49792f4e-4208-4e9f-b78b-3ea6a060e426 CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca3948a-7b0e-4939-a4ec-85704dd8b9e2 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43145a66-a694-433f-a3d3-a10356855e65 CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f414ad3-e19e-42ef-82ef-6d8c3ab2992d CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fca996c-f4a1-4d10-8e7f-a3fd324e2f2d CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e7c5fe-e098-4afe-a9a4-809e649b271b CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bea7aa3-90e7-4288-b9be-139164c72790 CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9181804-1fe6-4610-9554-158b013b37a7 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03297f35-1b30-4eef-bd5e-05457cc37897 CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809250b6-fbc2-41ec-ae6c-717982319340 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f210faa-e9c7-4134-9a42-251ce0df02cf CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f942d799-97a0-46d8-bb20-a8baeb942391 CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a9c0189-cc09-40f1-8e79-d00fcc3ff69c CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc055ac0-16d9-43b2-a384-26b19fdb274b CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97321eab-549e-486b-b2ec-31133f2958ef CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee5e882-5d15-4402-b3c6-d5fe902760c1 CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07990f65-ef21-4711-b51c-49d5699cdcda CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1276dd-a544-49a4-b04d-80a3b6c53c8b CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 024dd8a4-c024-4cc4-8bfd-4cac301be788 CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1070b9fe-f138-4039-8199-27d1076619b0 CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d531cba8-89ab-4e53-a627-f27e399409ed CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9fb64a-ca8f-473e-a5dd-207b3bc5ef9a CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 394ad5c6-29ea-452e-b108-5d9cde548a7e CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307133ac-64c8-4062-91ce-559cbd992de2 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fb28285-a595-4794-a888-d11e1c986ba5 CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3071ac80-a707-44a5-ba2b-c3509d9eb753 CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15b53a7f-1ed0-4fc5-9d90-e55ba70036d4 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fbf9b1b-3a80-468b-844d-a0d9218093da CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 276efdfd-cc43-45df-8f81-ddf0f0d2350d CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff1e945-2494-48bc-a847-3cad64448284 CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d06d2885-733b-4b5f-91ac-9108a50b9888 CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53b3bf8-2440-4536-acf8-0e5ec443e615 CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a1e9583-7f50-44a6-ac90-1e7827f938f1 CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca16cc9-d201-4838-8ce3-dc96e120d7f6 CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4090957-dce1-4b44-a5ea-98efcfe1e152 CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6ad06d-ccb2-4d47-9510-2887c4b2878d CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3edf639-be65-44cd-9195-8ea2cd4d7f38 CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b3ae4d-9bda-427a-92d0-be9d11eba939 CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77411810-7105-4753-a73a-27598853fa92 CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7739e69b-996e-40bc-bc48-3a9143c2c051 CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cd32c7d-5e08-44b7-ae4d-ef62cb973f9f CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18327c5-7e51-49a9-94e1-9144ee258456 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf27489a-b5ab-4654-83f2-0e2ac1060182 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56714b3c-bd9b-49d6-9e7b-b009214a66a4 CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 936b7925-18b5-4db4-8bb2-d5d777d04054 CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434cd668-f79c-4694-933a-baea10654975 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b6d2c0e-2ee0-4b09-9ab5-55970f46aedc CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd67a4cc-9235-4f88-a5f6-b271ba6d7d44 CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbd9fed0-e924-4fa2-a5aa-3a78cb8487a9 CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1588f8-68a3-48d9-aaf3-648ad6bc93f5 CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75bd7358-6e52-4e2b-9c60-2b4552c7d510 CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e3d564-7e69-4a00-b017-d454e3f34926 CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84621f96-9a32-4a83-9b6c-0b0c2c549c9a CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d50d5c5-4d67-497f-b1e7-9eeb308268a1 CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d08e0b7a-ceb8-40f0-ac93-05a3e6a8e721 CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944a3391-9201-4b8b-8ba7-3d7fc50d310d CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d5f917e-9cff-44b5-baa6-33d50cddeb0f CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbafd95-e7f3-43df-862d-9b082e40a150 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4f46534-98d1-49e4-8db1-7cdae7d6d4b1 CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d56083-4841-419b-9d79-d3af56ad4d51 CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a417c991-62b3-4ea4-88dc-8864d75fa7b8 CLINVAR:3899317 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7894f1f5-b5d6-4f0c-82a7-6006e37472b7 CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86b22a2a-5b8c-4833-881f-05355565615c CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a4482a-37bc-4520-a0cb-41bd063c73b3 CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e22953b8-e7df-4d95-b51a-bb70ae69c84f CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e05b0f8-8134-4a73-b250-f7936158a1de CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a788a700-d581-49fd-99b8-0dc9e935edd2 CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4123e3a-424d-4b94-a747-88c61bee5144 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63df3681-8207-4fcc-a7f9-5237961ce91b CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f97568-1def-4129-a6cf-c895f7449c8a CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88a1e220-4bb2-4f3a-ae57-5653c06dae67 CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99a777c-5218-4b78-86d9-caf5f94d9ef0 CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ab2fcba-c1b9-4c1e-9582-6e70cac3ab40 CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f32e17-a1aa-4a00-ba38-4a20695acbfd CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a7a0b88-52b3-4993-9d82-12ccf3585f9d CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16798c29-b932-4069-a576-d75a2d37b276 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ce387ca-94e9-4c7b-a7e3-f268e60e964f CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90e38af-e55c-4ac7-ac9b-65925c4e4185 CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c973929-3b79-42ae-b4e5-155ab730d247 CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e54b4e-033f-47e6-90c3-07dae35385c1 CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dc18ee4-eb08-4741-b355-c33d3f577060 CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89abe7c4-f687-4d92-9453-6c17bf34f621 CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c02d56c1-de2d-4d0b-a3b8-93136330c171 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3323a79-285e-4a24-9e58-caf0b8c37cf1 CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f82d7a31-bcf3-4774-b283-3acb6ae4d28c CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7102e150-1e8e-44c6-a65a-4d0ac04993bb CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dff8e3a-4718-428b-b1f9-070f6614e32a CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe76218-4d60-488e-b22c-b48dae23a771 CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43bf0c2e-895c-42ba-be54-4552ec5a9e1e CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2e123f-91e2-4718-803e-faebe40c2119 CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d213112-9c3c-4fd6-9f4d-dee40dd31da9 CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72879a5f-670a-4aae-8b78-b42b978e3a01 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d719a213-c6e9-4ab4-a577-c4c178ea16ea CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77a4390-ea4f-492b-b0f4-bec8593bbc18 CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8f4f211-f22e-48a8-8574-dcde8eca25c3 CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609fa259-f287-4d59-9e28-d3e218670084 CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca601303-07e1-4ad1-9219-dd1d1304fa1a CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836798df-8cc2-40fe-9321-d98b5d5b54a3 CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a99f81a-c1de-443d-bef9-fa430d85f7ff CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a9c4ed-19db-45fe-b385-51f32efcc56e CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1f666b8-4fc3-4a31-883d-b2db1eddc31e CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43828b0f-68c6-45de-924f-b12c0dc0dc22 CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c35c77db-472f-4357-80b3-ec549a91e5c9 CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7665bd-a093-4134-aa1e-512a0af88822 CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44c0233a-3a54-4003-b408-0529abf2d701 CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f742312-2921-4ef9-b67f-d18b1dba0c99 CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84329732-1f54-4463-93a6-46d6942bfc86 CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f44b3c-71c4-4851-a4cc-904f0495bc7a CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c913009-b3f1-45ae-acab-a8a4f4549fcd CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66846f7f-dc70-4e79-bceb-0148ce73605a CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c790314a-096c-4058-afb3-4791cf57038d CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c3bf97-4765-4f9d-90ff-59cc23eaa653 CLINVAR:3668347 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81f0a569-260c-4bad-a9b7-1249f6ef3096 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9180b32b-77bd-45bc-9ea3-3f8054885118 CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b00ca6ca-b885-4d3c-91e7-dee26f80e5b6 CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd169148-b072-4802-bbac-8412b92ec911 CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03ede52e-b3f5-45d0-9b04-48d703564a9e CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d84aa7-5436-41a6-b6dc-e800a6b139db CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7aacc73-98f8-4bd3-9c2d-753aac946776 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa83313-8480-4eb6-9576-c7c95ac9b6b0 CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e85bd1c7-a5da-4f94-be92-bec15a03ee08 CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea20bc1-89d2-4946-b7e2-11c917e2f780 CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3c8b48d-aad4-4c17-a365-6a58a044520f CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ab50e5-853f-49c6-b42e-8832f14e3ef8 CLINVAR:3645433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e52b9c2-8014-416d-8cdc-07319c778745 CLINVAR:3645433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4adedde8-2f47-4bf2-80f1-a53d92c77b1f CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25d0ae81-a0a3-48b3-a89a-23ab7b35244e CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a2b924-0e66-4829-9bb7-28781ac3b5cc CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dc5260d-bb88-41d3-ac38-8549fc03bb48 CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9f525b-e605-4343-9a8d-3ee10eaf316c CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e7e4318-5c55-430d-8ec7-95840cea254d CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c49dda-56ed-4233-b4e3-10e56dcb4c19 CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ad4c805-75f1-48c8-b9ec-1cb98c704f84 CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdae8ff4-36f3-4b0d-a55f-50f6f08c022c CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9c59d07-ee3f-42d6-8adb-6efd8293ab06 CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18143b6e-c22c-4891-8b70-7520f9ec0afc CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2abaf989-08fc-4076-a1d0-907cef3e9725 CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c1b83c-f666-4622-882d-aafebccfc527 CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9da6c74b-0c09-4284-980b-252286552e59 CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fadd473-114a-4a39-a932-b2b4b62c9e66 CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ea8f898-3409-46b5-a69d-894e122fe9c6 CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1364ccc-d582-4145-95b9-c93e48723c94 CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11269db5-c9ba-4f2f-9631-6436fcff5e92 CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f70ff18-a802-49ec-b14e-1876e74a761d CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf1801c6-e279-45fd-9f2b-74df092e5192 CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a8117d-cb61-4e70-bd98-23ec17b8529f CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1369d20-62fb-4ede-9827-bd36739bb04e CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f34a058c-17d3-4ac6-9a05-e8291ba9d8e1 CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72fbf95e-29b7-47e3-a7ee-374f8ce02699 CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a2750f-9fe4-4778-887d-4de715ffe5d0 CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0a1b821-354c-454c-84eb-4b1d0c3718d5 CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5a611f-034f-48a4-9325-98eb708d8629 CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ba1bd00-230c-4bcb-b7fe-6d0396f573b9 CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27dc777c-7c72-4ee2-b80a-a1d1c802c322 CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4e80850-092b-47c9-a8f0-8be6898cdfd2 CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d897b101-7774-4762-b560-f9b5ef8bc17e CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36c8f4dd-2c8e-4a4e-98b6-c981a6bd3e09 CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5d5612-1a5a-4726-bdf0-37298ffc5764 CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38ead53a-a9ea-44f7-ba18-5e505e431d83 CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3302c088-984a-4b34-96bf-77570709f1ac CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7edc3732-20ca-456f-8d3e-0e97cffb8b54 CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15751525-91d0-4248-9a5f-f12f82aa2ab8 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2b07cb3-e8e7-4bf2-8818-8e4fce370565 CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e96884-3e83-487e-9587-412005d3bb60 CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c69a70-44d8-43be-a26a-eaca65f7674e CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca775f36-7b02-45e8-9654-4c44ce441e85 CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf911aca-05b3-464f-bcb6-04ee4619a758 CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045f208d-5edb-4e53-b430-c4af9068c893 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fe03cbc-ec6f-4b23-8509-76d4fd94b18b CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01265da9-3af0-4696-9f00-833b23d5a65d CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2880ca99-df01-4be6-8c93-1248ddd2a2e7 CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fa5e4a-65c6-40f9-bde3-a6fa2ed15b5b CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 531c0f21-969e-4d95-bf11-9711bcd55387 CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed2cf46-f3db-4b9b-86d5-f28a629e1163 CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61e542d4-7b5c-4a54-9686-865f22781875 CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabe5e3d-4d56-49c1-b8ab-ef2d467d20a0 CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb0ef155-d0d3-482c-a011-6eeb724df26a CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8fb1b0-7d9f-437e-906a-d251c838b570 CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 142ee5f9-9608-418b-a01a-9dc03b9ef62b CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85c1625-0b3b-4014-8008-8c45fb80d6b8 CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71100fee-cdc1-4666-90e8-5fb96101f058 CLINVAR:3906898 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb0999e-fd45-4122-b53e-441b1c4ad0e2 CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06963285-a202-44fc-82db-9a20ff568b8c CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920b6520-9d3b-4498-af43-2a218e47eb5d CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b5e56ac-8c87-4a92-a030-5bc2d05cb7d0 CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d73d80-ce53-4545-a766-db0cd1baab86 CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caa9588d-36fc-42f2-913a-18df2c7c569b CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83990761-1b73-4beb-8d8a-06d9132ae662 CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2a0fab5-4352-4062-aafc-dc17d9273e9f CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aec48bf-2d6a-426e-8aae-eaee904e0beb CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c33cff0-d8c3-4d4a-af50-d86e301a7349 CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5d7d62-1e87-4824-9876-21a33cf0314f CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21425a19-8641-416c-b72b-4c52dc69be91 CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb060de0-bf90-446f-b7ea-46315bc69bb2 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 203107c3-ba02-45a7-a159-15904a07a4cf CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32680fb2-73b7-49bf-954f-4feecc81af9d CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee1fa956-c211-4644-8e9a-dbb2da2d7cd3 CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187db6a4-8bb8-40fc-a01a-f09eabd541cb CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e8968f5-eb4e-4224-af2c-256d3be579ef CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76617536-805e-4da3-b251-82114080c7ac CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cf603c2-2f14-4514-824a-f1199b0fbd66 CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866b1911-bce8-4e08-b509-f59b7289cbe4 CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 034a0b0d-f61f-4977-95d9-265bc87cc90c CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fccbc61b-bd03-4a4e-9f45-b1ac75050fcf CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51fbfffc-c05a-4b72-b9e2-f74346e7b6f0 CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc1bc56-e74b-4c9a-b7ef-25753bbd21dc CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 631530bc-c0a0-439c-9a6b-e39daa018455 CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366f8130-fc6e-469c-a774-3f9e88fc9597 CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c28a27-8b80-4070-9bea-f1fd262ca9d1 CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e5c96f-6205-403b-9ac7-3cb5c29324d2 CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffb403e2-349f-4748-9448-3e05314c34a1 CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa13e330-9415-4c3a-851f-cc2b12727653 CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfd52950-e7e5-440e-b695-d24077190e60 CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14683f48-8b9a-4129-b788-2612afb5cd22 CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1afdb1af-56b6-4b22-87bd-b48f99083263 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea7a890-22bd-404a-a8c6-1e10f49e4abb CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fc71f01-a467-4f17-be37-a49201fcdb74 CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3a4d24a-3a0f-44d5-956e-bb3e134ae4e9 CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634cd724-c289-4005-abe8-f4eb7ef65f54 CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87323576-418d-4ddd-b1e0-0ecec3f17b43 CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd975926-79fa-4325-af1e-e75a439e5913 CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe6cbe0-6949-44ca-a1aa-c11240101d05 CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bad5059-54a1-43a3-9711-13378e46bc62 CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73cf6022-9e3d-4b41-b318-b704ca8785ca CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9021ec6e-4878-41cb-b4f4-e62da535cb38 CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2852989-a620-4d5b-bef9-236dc3d9f615 CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cd9c1b7-ffab-4d94-9f36-87a3de940ea7 CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a1dc2d-48d2-4d37-9c0e-900a9be58b56 CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ace785b7-c5d1-4faa-a091-5b3bbf4fc65f CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c436ab3a-6df8-4b78-8054-a3765a37caee CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a9cafac-b444-418b-8061-42e1dffe33d7 CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4634ff-b778-44ab-b391-9053c3be1350 CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 908fcbb1-4a31-4200-bab6-1a107fb81ea2 CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f878cb-4c46-4788-8fdc-edcf712e33ab CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08a578bd-da9d-421d-b3a6-5a4129b85bfe CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99e118c-600d-412f-9163-ecdabc427a8a CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08501265-740f-4bf2-8a0e-c9c29f5c9679 CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d834f68a-4f88-42a6-8f04-4ecf8dc87399 CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81e2880d-7a46-4f65-b5d8-82864fac0d3c CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28867f2-2e74-4791-8bae-df90ba69f6bb CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4afdce96-9e29-420d-8df1-125a9a8fa83b CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f75b3b-e2c1-45f5-b32a-2bb3d47d790a CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb8840fe-bd10-4d8c-b40e-8806957f4fa5 CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363d464a-0e2e-4bc3-b38e-564a3fdeef12 CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bb97ca2-f1e0-4de1-bb86-62151fe70244 CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cbc91c-7e69-427d-86c6-852e18e455a6 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 866c6466-4050-4a41-be66-2b28d664bb6f CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d51ae1f-05e9-4300-97ab-b87540872adc CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 486b2eda-7e3b-4e01-a762-41cb258aafed CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61e9cca-3bac-411c-bacc-f235db155e13 CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32b35c66-3916-43b1-bc57-eed77d36791d CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb3ccf4-5b29-4570-b9c3-1bf7aefd7426 CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8243a74-eab8-4866-a0f1-e06b8f727006 CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f050cfb8-bf30-4b46-98d6-57629e57eaa5 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2a9f858-7184-4853-b438-5954b5544d86 CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1f8b66-1065-4d80-a3af-9b7245078959 CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c4dbc5b-be19-4c79-a64e-9188789bb7fc CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6122604-8d1b-47b5-8323-79ffad5cb656 CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9d9de66-3000-4bee-a801-5bf797528619 CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa61d4a7-d754-486a-a5ae-934fcf24148a CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdb4ad02-316c-4769-bccc-e395d29c7bc4 CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645b33ee-8c06-42ce-8a6a-84ac7fcb70f5 CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23678df2-eaa5-4e46-8e16-b0def880fa04 CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbec91c-b2a8-4263-953f-33a1542997b6 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65669b07-2fe9-4bad-b29a-791bc0fdffff CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f08a680-af85-4456-8390-56c5eb682532 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71689ec5-4f5e-46d4-8d54-7d2d99d0bb73 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36ace2b-ec72-40df-951f-968ba770c3e8 CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edcb4057-ae3a-4bc6-a22f-204eea30663d CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e95b269-12d3-4477-bcb3-e94e68bbf21b CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18ffcecf-ec87-4a89-a336-c4005c72f984 CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18d0a8c7-9889-4299-a985-2a668398caff CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96b98629-67fa-42db-b0e1-7dc6ef85b4f7 CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db00ea09-58b5-48f3-b250-717f32148367 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7841957-6ba0-418e-befa-d30f3efed52a CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b916507-531c-4669-ad6a-fd14343c3212 CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 457ff829-d879-4fc7-8826-877d66426eca CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109c3b68-6a3c-4283-8775-b420342aa62b CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9090e041-5102-4543-a266-be943781a0d1 CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b17f16f-9c3a-421e-901f-867e8322f33d CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46725b0b-f12e-4c39-8277-cec870f82338 CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8534529a-1d3d-4413-873e-73db1d909218 CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e83ee0d-800c-4159-9b2e-a4f6e19b4405 CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5bde68-00c0-4c3c-b42d-9b6ede5760e4 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2a727b1-1b98-49be-b2a9-82c23a7fb35d CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c680969-0de2-4500-ae6b-d5b358934321 CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2accd2b8-f74b-43de-901d-dfa2ad4dc647 CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d603de10-22c6-4cb9-9a43-72443b23a314 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b0426a5-3ca8-44bf-aaa5-e3e49bd63cd6 CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1652cfa-40e7-4999-ab5f-1c1e3b6b4f84 CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 036b592c-ae8a-4177-a533-37eba4d766d7 CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff9af7c-d0da-4548-bf65-72a012c2cd5b CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6bb8ce-76c2-484c-b188-1ac46a40f818 CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87aa10ea-aff2-4e9a-aac7-5c120c8871a5 CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c11fb786-35a8-4bff-8d0f-d1c261138388 CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def063df-2cc6-40ec-ae40-d65935a77aed CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3034660b-bc40-436c-90d7-1257a9bc80f4 CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e696a6b-166d-4c9c-9548-496b6be2e361 CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 271b2538-58fd-4a99-85e2-6db472b19c94 CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5d1bcf-6028-45b1-be66-7ff78d6cc5b1 CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fdd69be-de0c-438a-841a-a9bfe18faa41 CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb371fad-7160-4c08-a187-622bb2d27d6e CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80344b2a-95a7-423f-b99b-6506129e5ca1 CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286145d7-b57c-4b0b-b1f6-8ec59b327c50 CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7301df79-44a1-4e9b-8457-c041d8695de9 CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98cf0239-3ffb-4cd1-8317-601993ddf44e CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ad4847d-0363-4b8f-83cb-abb269f895d7 CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d692632-fb1f-4312-88a3-4f5a03849957 CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c880dad-ff45-4317-9d49-8eb890473741 CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77658f54-0481-4fd8-b383-a19fdf1758e6 CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d536e061-3841-48e2-8dd2-69fc0a7649c9 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d2df85-462c-4aec-822b-9e27eb1f0bbb CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bfdd1a9-9e60-4f4a-9a7b-fbf7c742a25e CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cdaea48-e5c7-40d7-afcb-d9ab930d9acb CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79987a75-db42-4887-874a-b03bbbbc376e CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1ed03c-dbf4-4da4-9bf7-cc70753ef8a5 CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66705ddc-882d-47fe-b933-6a0d5cb59705 CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be64746-50f4-4437-b3d1-58761d24d8c8 CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17bc91d0-29e5-413b-91f0-d82c9ae99ed8 CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a938e7-36ae-4003-b95c-0631d1b1f103 CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f9137ec-02dc-45c7-8858-78f21ae2e29f CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46a958b-bc2a-430b-9031-38d2af9d4565 CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5a1d4b2-8df5-4d1b-bbb8-0165099137c8 CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21ae7a0-c638-41ff-8925-9215ce00a57a CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5f5062c-544f-46e4-9943-df0e4ff36938 CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d41876-e2e5-4ed1-901a-7549a01e3a67 CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ebda9dd-87a4-47be-9826-58fbb46f8a8d CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1055960-c54a-498c-b0a4-29fb98bb7197 CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9252d9b7-4224-4372-99c5-e692d0b1afb7 CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bde44c9-3013-43c5-b07d-97815682cb41 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d94096f-de4c-4cbc-b424-0d032b768735 CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce7c8f10-616b-4181-851f-e95159f338f5 CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec83b46d-009c-48ee-930a-3f1e105e7e23 CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c6c437-1239-4a46-92b0-8ecfa5ac31ab CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2cd410d-1e75-49e7-baa7-c249dafa0d02 CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54664148-8b2e-40df-8fd5-9570aa326a4a CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75d07fbb-7828-4f28-a31f-3e6ad1c2ae6d CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ebf7aa-99e8-4d30-87cd-4d76cae9106c CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02876af9-f1cc-4eee-ac5f-aaac8329295f CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3f0952-1bbd-4e47-81df-8467624a6ece CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de06b2f9-f306-4287-b28f-c3f297365133 CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ed95bb-c225-4921-85be-14b149e1d380 CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d2c95d3-ee8c-459c-9227-fbbafcf6978f CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297416ea-bbee-4bd1-8b21-5a4e93f0164b CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 580f7885-e38e-4e74-a8e6-69f55ad03bdd CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f4da194-9182-47c4-bbdd-a05a11193e31 CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea3331a4-8f2b-40bb-92ad-2fe3a743592d CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726cc6cc-2609-412f-a22e-fc635390502b CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8286e02e-6c2e-4450-8fd6-3d16b0af1155 CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da03495-d7a2-42d8-b147-dd3ebd50e104 CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0a5eaa1-6872-446e-a96e-280faf3087bb CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8198fd-b5cb-4d5a-a49a-962a4dd26f85 CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5956ccf0-19df-4525-915a-7291c6dd5ccd CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18267c8c-b87f-47a1-957b-7fdf3a13e0b9 CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 493782ba-b1b9-4101-9aef-8353ea495c95 CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be429f08-388c-4d66-993b-fec21f4e91d4 CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d3c804-156f-408c-92c7-11b50cf46897 CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfacfcd-acc0-4686-80ec-e68abe734558 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 436076fe-7eb8-4091-9fc7-7438194f7899 CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d3d068e-9bfa-4a3f-bca1-d02feffa03c6 CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03f21007-4cbb-425b-ab8f-7faf5b2f7300 CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8fe647-7ef6-4cb7-9478-fff82a2f2e2b CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd20cd70-64fe-4e41-9dd4-4ebe9948324a CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4f487a-aae4-4662-a4c5-4cf8db7d0ab6 CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a4dfd34-2808-4966-888d-7040a2144451 CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675b4a22-2e84-485c-a2f2-fd6a92854cff CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72466d06-d57e-4554-8bc8-946812e00df4 CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf30a7ba-e83a-4c4a-976d-ef8d8fa6af3e CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78a09edd-3f90-458e-b4a6-8efb826203b5 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40e199c-6e95-4a07-b1fe-f98e196f6960 CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd33fc68-4419-497a-873f-838912021e0b CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed23872-c0f3-4d80-b20b-2a3fb7935315 CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 694a24ea-6e11-41e7-a904-b8e7d74fa574 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80ee0ad-4b06-472b-bcc1-bfe9c13d62c5 CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80eb74c5-f2d6-458b-9ea3-5d29c3bfd483 CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073dd0bf-9064-4415-878a-0c1c3154163f CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92c4fdf5-6e7e-4857-be50-60a89af2e320 CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7d02e7-8dad-4183-8783-bc3bda77b4d4 CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccde5178-5e0c-4978-b367-e8c4371d34df CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b314a8ec-a6cf-4197-b93f-4f477d2206db CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fef4d462-92c2-499d-b959-a8ff0e917948 CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31c4aa2-2c56-4843-9c2e-6b12ae8f56b4 CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3049f4b8-398c-4269-8616-ff12fac842b6 CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c8755e-0d84-421a-bc2f-3b3dcf2fb9de CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad660a7e-88d4-4fa6-89ad-c5311b06adee CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef138f05-6f78-4938-bb5b-aabf308458c4 CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1560d17e-81af-4862-9680-2721bdf9db77 CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2896d456-fb0c-4bf1-ad90-572bc9d64af4 CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab9a1754-acee-4360-b10c-7d1fe1683525 CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45fd1aa-2a87-4a32-a4b9-965072788aca CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f41acf3-78e6-44ff-a88f-e279fe655173 CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2586eb1-18e2-4839-a35b-fe4114c844ab CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aac0cc4-6cd0-4f76-942b-affef734cd8e CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69615841-0d63-416a-8fb5-9d837057d87d CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b46e0ba8-bf37-4e65-9bb9-3cc84c788486 CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1fbc2e4-a1e9-445e-8b98-1a4e9e609073 CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b855040-6568-4f2d-b08c-dd474e61ef0f CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3929ff11-3868-489f-9929-d56067d582af CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 101f4406-1f95-4588-9fb0-faccf5e706bd CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b96d05-f947-4bcc-85fa-79878267bb86 CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 828b1c4a-8f96-4f69-b7ba-2287867154d5 CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae943592-bee1-43eb-9076-2baf9bc3f7c8 CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 644f529f-1c60-48d9-9de9-9dd90314b0ba CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cee2802-0724-42e1-80f3-40300af95597 CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3b53b35-6213-41b3-be4e-db38532fc5db CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b0650a-1fd6-42ab-ac0a-6ea4f8e6bd08 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c854ae-4215-4bcd-88e2-a7560bc68f63 CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0da4ab7-9d87-4315-930a-0cbdef91e698 CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84942da2-f51b-480b-a6b2-98f8232abe81 CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab9fae5-95cf-40ac-ae9b-24a2207fffbd CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edd07c2c-d980-4307-97a4-3dc06550e482 CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae33acf-868a-4ebd-81d8-7eca9848b196 CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce7049c2-f1cf-46a3-9f81-61a53f599e95 CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be1cbe6-55ba-4f07-bf4e-d344945431d6 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a994e8ae-b79a-4885-b014-6d28b4719e30 CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90910085-df1f-488b-b8d5-593f1a61c6f9 CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac45bce9-04a8-4f2a-9f4d-e1d614fc3208 CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37c43b5-595c-4d73-b824-fb7514f2a9ab CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad40faa9-f670-4dfc-8d3a-3ee1659d5d1d CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f440bc-a174-4b87-bc9f-7e145a4bdd60 CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37e49acc-292e-48e7-a142-270649e42b99 CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d92c66-5926-4924-98f3-33d6996c213d CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a8ed955-0462-41f8-b2a1-7cf45f60c621 CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32b5df9-096c-44dd-add6-47fc87ac0b88 CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34003ec7-5e39-42c1-a8d7-e65a1423f33a CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6193efb-7d5a-4e95-8854-a6a550f2d3ef CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c0d35cf-9582-4dd6-a195-5a7293fbd21c CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1764b121-d4a1-4b7d-9a27-d5b0d89734c2 CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f42e3bac-56c1-4a5a-afcf-ad34df9a5187 CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ea2135-cbdf-4aea-ab73-197e631470b8 CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe72cd07-dfd9-4a29-b904-028f4f8f1ed1 CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b64ec9b3-164b-4050-ad67-a3a795fa0d81 CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5d70f14-d967-4697-b21d-7f28eb67ba37 CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a09e2c3-71b4-405a-be3c-5a1ae7ec41c6 CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 392cc10a-75cb-46ad-aff9-0d75c3ea383b CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7454f8-988a-4513-9a93-037bef228596 CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 022adbe1-032e-4d4a-94fd-c3db0afbe447 CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75525abe-1a2a-4806-991d-a5602e4982fa CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28fea1ec-1563-4a61-affc-4089300386df CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f92a0ad-abdf-4126-90bb-e440a4390ed0 CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d4eaeed-255c-435a-822d-99e4260219f1 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2432339a-0c31-4ce2-b258-e7bf6c55a927 CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c6b4e34-9076-4e35-ac45-bc6c72651cf8 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8b3da1-d0f3-4f8c-b7d7-ece91114a422 CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e67e522-c111-4d47-835b-d1f605774df5 CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c40888-fa84-417d-8c45-00e85187e6ba CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8a10e82-7e2b-4092-9927-0924b292519e CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23b6f92-fb61-4511-865f-5c9f62896531 CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 573a25fb-dd6c-4a16-861c-6b1d621d160e CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ac86cd-9c68-4f75-ab97-6bc2b9b1d479 CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 982af9ef-ae4a-405e-9cd4-8afe6d2d01dd CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79016861-f24a-49b6-b44c-2aa50bf4d6a6 CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f96c7f5-713c-41db-8943-c1c917e5f765 CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76128694-f9ed-49ef-87d3-3eccc6ea5323 CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d3f86ea-cb06-4275-bf91-606a23db8f44 CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04c97c8-7453-4948-8522-1c9d50581c6d CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0f0f899-0541-44f1-b028-8278bccedb48 CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0861f80-bd86-461c-9cef-f095d5133777 CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5f37e98-6985-41e5-b535-8312000a5499 CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb25992-73d7-472b-9265-619e3386ed60 CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa77d032-ecc5-4a0b-8954-48d15d20e914 CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f72c29-c28c-4717-8af4-b7d65d69608b CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a90669f2-ff69-4b99-bc5f-920f5015f190 CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170c1e88-a375-4544-94cb-2b5647b295ef CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b40adcf-36cd-4c95-a395-53d1b5d0d8f1 CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a6b10e-a7c6-41d1-b23a-7c5f26ab5d25 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 803343a9-b53e-4a8f-a8c1-72868d1d5af0 CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e0caea-293a-4dc5-bf0b-2c51fd558745 CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94809212-610b-4884-8e4b-6191c70ade0d CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de93c049-aaeb-4b5b-8a0c-6b4174c6c349 CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6148e12b-9518-48b4-b67b-f20218e09cfb CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5381d3d2-5410-40a2-995e-0f52937cdb66 CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4213943-9f95-4b22-b4b4-3fc51af97dd2 CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27dcfac4-6fb2-4577-b136-459fcf524a34 CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c5f02d8-bedd-4547-9132-293b69187178 CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700b41e0-5d70-4af4-9474-ddbc2cd97698 CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e89cd029-9f26-44f0-91d9-58bdb0989fe3 CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c239ab0-96cd-4873-bbc5-b1b60e5b69b7 CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84c33a92-e586-43d1-ae55-fb9bda2b90b9 CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea93750f-e645-4e0c-ba53-8bb6a62178b1 CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abe9a06e-9639-4843-954f-bf75623a6909 CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bc5b23-1346-424f-bac9-5487955b4594 CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f78006c5-b35d-4dcf-bac7-918f1cdbb440 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864992ca-1f04-428b-a3be-7a52b2a1e4d3 CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6953b66e-287e-45ee-8610-623d0e6959ba CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652312c0-1a5f-4ecb-8026-81a6e72fc5fa CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bedc32a5-d44c-4b1b-8197-04b85ac9bb95 CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b64d79b-b992-4e12-9712-e00713b0c431 CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ce2256c-e148-48dc-a7de-a7b87475645f CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0539ca-ca20-45a0-b5df-bef6abbbdc4d CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc93b88d-593d-4d77-b27a-595da2d261b1 CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ecfb16-61e6-42c1-b8df-c26da91ec761 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 314461b9-c667-43d3-8d2c-f97f917caeb2 CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0e939d-d00b-47a2-8c4b-1639e5411398 CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a38a4772-4d2e-465e-adb6-3db28522a01e CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72a16cc-6a2a-40ea-9ffc-80ddeeaed3cf CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4a55a69-869a-461c-807b-471eaa7619d8 CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5748a1ec-3c1c-4baf-8c57-0a6ab326b67e CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 917fb7be-0a9a-4af6-8bb9-e7ad7a7cd1cc CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9ef60b-aef0-4607-8be4-cbe6980dd2f0 CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ab4f722-cab0-48a1-b325-18fa77e4df21 CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cdeae8-6bf7-4cd7-bb50-9aaebb5caa93 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfc458e7-de55-4f62-a28e-101b8a985931 CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3323fe46-4ce4-4461-bab9-3d6bb210eba7 CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27662d84-fdea-431a-a449-d0a2214dfc80 CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15aa7c40-c301-4a82-9fa0-8f3531841d6a CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a0dd519-2d66-46cb-8939-543a4171bb45 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f130fc1b-93b5-4023-bf20-cee3e80a2784 CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 011b9173-2721-4502-a68d-72fc2358bc70 CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8976407-af2b-4934-92ae-6601be429102 CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e56534bb-a3bc-406f-ae7f-127f9dc1a185 CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6882d1fc-20a2-4b15-b4e4-3cfa3535a737 CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5cadf7a-e5c3-4c58-b560-ec2827ca4544 CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7042f689-23b2-4b34-a690-d515355b145a CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2dd3b7ac-a013-4db1-b7cd-1084c16d31ae CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31175338-797e-44e7-ab33-23d69fa09e16 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3a1128e-c54b-4a27-b45d-e60e49f27525 CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338928f7-ddca-4ab2-bc74-3a684eba5f8b CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07143d98-8de3-4ec0-8de6-6f6dc69f48e9 CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02572f55-baec-4805-a95f-ddc81a444d14 CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90974729-06b5-4360-a486-ba976c0024a6 CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cdb0ef-afd7-4f23-9a15-6495d2840fb1 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afdfb05d-bc68-4543-bf5a-93bef837fb10 CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f23a0f-9e35-431c-bcd3-6632757f889c CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb6c916b-f734-406e-bd35-451ee5a8e020 CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f27f3db-65a4-46d1-b23b-bf42ac463388 CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dcc379e-44d9-4502-be14-d3b45d903829 CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f2fefb-6aec-4f0b-b529-b46ba0ec865b CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 178492c6-f325-4a32-beba-ceb5c3207933 CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a55634b-cebf-4a8c-86f5-33f2da152a8c CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c4d499f-03ef-4004-a25a-dcfee478d966 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627cbae3-b1d2-458a-9b5a-181ac1fadc0b CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6964667-c2a4-414b-9cb6-9a2e8edbdb3e CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764ae88e-804e-4640-a83f-9ae46a5420e6 CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419770ef-49cf-4030-a3a2-0b78d334b5eb CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2f7a97-7bdd-41aa-9f21-c8c1d9c12d5d CLINVAR:642531 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faf75845-23f3-43fa-88c7-8a8f042dc8d0 CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eecc7109-9cda-4e4d-93c7-bfc4f658e546 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65355e0d-4f85-49a0-83c6-b072c674bce1 CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7ba9e8-478c-4a3c-be8e-9148228dd614 CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10de5dbb-52ce-4662-b03c-afe90ce3c0d8 CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a08d00-c72c-498c-94f8-241acbc2c1b8 CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b6013e6-3b47-4a62-aa66-ed7361add16c CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf59c328-e0cd-4369-b387-956f36e8a367 CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3eb2e04a-4a21-4259-b95e-fb3e72774e0a CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ad529a-ee78-486a-9c46-b678d14cc345 CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88ef88ca-9ec1-4f57-a922-b49a51ac3415 CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e874a89-16d2-49c8-a838-5d7c38fb224a CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b34226c4-bb64-4a35-9346-6d6634e8fa3f CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24dac953-8c81-42d5-bccd-816b89f51b76 CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4ac63a9-dfb5-4b54-a7cc-62f88a18c754 CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0e42b6f-eacd-4515-807e-96ce514bea89 CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb48584c-341d-46ea-be05-737445401c90 CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353619e0-1e46-428b-aa65-2b98bd52d298 CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b8bf9a6-bda2-45e9-aa73-dde6e5faa6ee CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad44f1c-cf9f-4da8-9146-65cc171b2b41 CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79dedda7-d747-4703-83bd-85500ba1162c CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ec3168-d222-434b-aa5c-8ddb4b2f9715 CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b2c6761-bf26-41b2-8559-ed1a2f9aafa1 CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25623b65-43fd-4781-b6ef-da8b38c95a57 CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7b98443-8f0c-41ef-ba8c-993ebcce9b09 CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d986856-d26b-43f2-b7d4-438b7651cc2d CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ae564c7-f5aa-4c37-9655-9487f7bfeb4f CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ea7da1-72cd-469b-877f-622bf6c0f4e9 CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cd7f328-cd8b-4735-9d3f-5941fbabeeaa CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4659ab1-8cf3-44fb-9ca0-56ac7adc301f CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e17b26-f169-4012-b311-d6dbb89566dd CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6128db8b-729e-4c2b-a998-c33491615013 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b79fb907-06c4-4d23-ab01-0c2b3e76866f CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1f2323-de0d-42a0-9ece-45339ccbcd24 CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb410f6e-1400-44cb-8afa-b06be5171388 CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f9a409-263a-4109-8646-269b89c1e6db CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e982d832-9961-4850-b6f5-cd4620b81592 CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a578cd7-ba29-4cbd-a81f-e7ac2401ea1d CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dbc2c71-0eea-4c05-be61-4a1df7f72526 CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398be529-a506-423a-a743-4a37ae507e15 CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfdc3d55-88a6-40de-9716-fbf56545f42f CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2829aad-e193-4bf1-820a-870628f4de43 CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ab5cc4a-b50c-41dd-a6d2-8c1b6527e80d CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17079ead-d528-435a-8f4c-2ccfdcfa3ccb CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8a50979-fe49-4d1b-88fb-99cae558f297 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89aeee5-e345-4730-834b-646257b34cf0 CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df33bbf7-7aac-490c-9a8c-2e15db614b10 CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca73eb02-fccf-474c-9fb3-e3b9b2158795 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c21ce8-aa91-492c-ab98-cc3c564f387c CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a5e6fe-4e44-4619-baf0-7243bf49fff2 CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f585a30e-7ea6-4e8b-b5d0-d22a1a7d0e71 CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e26344a-e9f0-4704-b297-8b347c8dc733 CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 453f14f2-efb1-4f83-b89c-1af870326c72 CLINVAR:3906899 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4380b649-e3df-43fe-a163-76615f04858a CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43db5f06-12c1-4ffb-a1a0-03bc3e604ab8 CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03921207-da1e-43bf-b2f3-dd44915ca251 CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab66e33f-c38e-4316-a94c-d00aa66d0e76 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72303b9-9f65-4fd2-9e4c-a0133aa881af CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d37882c-fb70-4ee6-8942-de0d9cf17188 CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e04608-8ff9-4b72-9679-aeff7d7e1081 CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16c6540f-0f39-47da-9c49-655aef54671a CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0f3c1e-e99f-4e5c-bb60-4b7d71ce056a CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d9d9631-e425-41c4-9884-17b40b0f8839 CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed39572-6817-4740-acb1-a0cef2e43bb5 CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b497bb5-ae32-4010-9163-4681e273cd89 CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5383f4-23a4-43a0-8f20-31053a25fee5 CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baf273b7-1393-4ce4-b696-a5d3174339ca CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0803f773-756a-4721-9249-05932e09df4d CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a37ade8-2485-4928-9660-e29a72441af9 CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264f6137-561c-4582-aa0e-6da7ae23d477 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f50fe95-d72f-4715-a1a0-9c26f499db2f CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1822bc20-3010-43e9-b2b9-b1ff035518c9 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a6dfb1-d4bd-451b-ab1b-e8f9be081767 CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdee5f4c-cb6d-419f-823e-eea471996a6d CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc2042d4-d79b-480e-8146-6aa41240be96 CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2f178b-1062-4e2a-901a-7783b6d062c8 CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7cfc932-7ed0-4168-967d-0e47a08afd4b CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eefcf91-9f5b-4880-b831-76b4a932090f CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e872de71-1210-4ee5-a7c1-5c122503ee2c CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5d9a34-50b9-4179-a315-bfd70c8e7f5e CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c62c782-1c9e-4d9d-9097-e72b98467ca7 CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03ee510-fc1d-45cc-80cf-0f4885ae612a CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f94f2db-acfc-4449-b8b7-d0405ea28d3e CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e301458-194e-42b8-8c4a-ecf061fe238f CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c3ee226-4688-419e-9e95-306ae122eec7 CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58345c59-2e4b-4f0d-907a-59dc5dc52d74 CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2230e2cb-4ee2-4e19-a06c-a3300042916f CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec06ec1-8191-4c64-be5c-3c1946fb40b9 CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92dff58b-b9a0-49db-8259-09fbe4edb27d CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fc850c-7706-4128-bb9d-c866a6d9e8ea CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6226a7a3-2887-4e8d-9840-ecb53248f763 CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96815b24-9ac1-42b6-af91-ad30b7c7479b CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f7b2fcd-0837-4eb0-80e5-dfa87f74299c CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1162c95d-6b63-44bd-8205-5ab0f184b23b CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2e92e4a-0f74-4396-8e2a-9eb7df9389b5 CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6dbd17f-3d08-44c1-928d-4890e1724625 CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fbf92ab-76f3-4911-899c-7e2e9b20bea4 CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a70f5f0-2a28-470d-920e-089ff5fef16a CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d4e424f-065d-4d88-9199-3a250a13996f CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f57585d-208f-436b-a307-9540bf871376 CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5792fb6f-eab7-43e8-92aa-3d8a473422b1 CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a862b4a3-43f7-40c6-8ba8-0488cde2dc1e CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28ca1087-4e43-40ed-98cb-4cf48d0de59c CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ebd1b3-f6d0-4962-92da-25fb9267dea8 CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e091b174-4bfe-466f-9a15-f97fd76789ef CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a00fbe7-3e23-4f60-bf2d-ca995f45c9ac CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed858c6d-647a-457d-aaef-766bbca0c6b9 CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc0dd35-3d65-43c4-80fe-7c9287287e92 CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edc18601-16a4-4ecb-9b14-3f6844f91192 CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33fd2737-63bb-4b79-89c8-373860053d5b CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 536c969d-2414-4355-84a5-36b6f6164993 CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13618ea4-0174-4902-9d51-b9e1ba5344c3 CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8704f38d-da97-479a-b677-c5e3be6ae513 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26af50a3-be9d-4fc6-9851-b4ee26766627 CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fd18a07-9756-4a6b-92f8-3e21feeae2a3 CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9151aefb-2e3f-42f8-bc25-e73d0b560c16 CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f950d8d-04e1-4fbe-8a41-01eef3657f85 CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720e11b5-d0c4-4fd1-83a9-c3b6d646e813 CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5b72a82-9ed8-466f-92fb-4fb6aa7aec51 CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcbd371-4a4e-47f7-971b-cf42dbe0646f CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 174e59d7-780c-4c14-ba2e-750a55c242d0 CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d21edbe-11c9-4575-94c4-90aa0b8d547a CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d4956a8-dd77-4165-bba3-03d7641539bc CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac5551c-ca2f-4fed-b317-98da92c4263d CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe531a5-bb51-499d-b3a5-36fe0aaef106 CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9aa7ab-d972-4e0e-9ae6-40ae3152a895 CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdc48ae6-3d79-4bb3-b491-09a84f8acd58 CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb20cbdd-6116-4ce1-a8da-a7a839c584df CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63ec38ff-6903-46cd-aeca-57f5cec598be CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0626fa8b-c881-4231-8aa7-0362551e48e0 CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79cb0674-37d2-4d8e-9cfe-e0097973e57b CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece7606d-6978-43b9-8fd1-cbc8928b954b CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258aa075-e443-4340-b36f-c181baa27878 CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f77a60e-b048-4224-be2c-b93d525c054f CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb2d8643-5253-4a49-9f24-9021867dc837 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040b892b-e74a-43cf-9dd6-b1ef383ee880 CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6df911e7-0f6a-49ec-b9c6-2b6fb072cf00 CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e4ab8f-7867-4e26-808a-4901c43a2531 CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f016c07-8325-4045-8528-23b13af779da CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cd1677-67bd-40d3-ac47-b139cc739347 CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83b96a22-8dc6-4bc7-a2d6-66bfc11b5e74 CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591e2ec7-731a-4b49-a544-b2f6c5d45409 CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4523ed56-bd0a-4abd-bf47-2ad6415d240f CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5c2d78-43e4-4f81-9fc8-8c98a4dba2ef CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b5c8543-5391-47d7-a3c3-9fdb88014a00 CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a6b7bd-d433-47b4-96fe-5e54923758eb CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 589d22ed-6005-4409-90b3-aa11359c9a56 CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2944f46e-b366-4fe4-bd42-034e6fcfe9ea CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02f142ed-2308-49ff-a7a8-5d57324f3619 CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abad308-ab3f-4147-93f0-fc3bffaeb11a CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be116f6d-3797-457a-b087-8ce249c62abd CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646cb3a1-313c-4480-9972-b76083d082b9 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4853e56a-123b-451a-a098-ea30bda6cbe6 CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b304960-1219-48e0-8a05-dbc3f440e617 CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dea62994-7772-4378-81b4-6e2c88805563 CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f47d1c0-f2ca-44a7-bd8a-0fd1b2ae0278 CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c06d3375-7cbd-485e-9f75-9046ece52f12 CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fd08cb-c315-4b01-be43-7a94c7a5e5eb CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22e0288c-b2ee-430d-be2f-68c444b0676f CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b482e9-f253-44a2-9ea0-1944f9f6a173 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 918a006f-2cdb-4b8d-9d5f-d516a327385b CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba67a93-b319-449a-9969-312ba08c8869 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7e6422d-97ec-4bdb-a9ea-39738bacca4a CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fcf8470-1672-4ff3-a3e1-ab032ae2c7ae CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59b8575d-69c5-4e4b-be00-f0abed8ec2c6 CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4399d0d-0413-4cd9-90e0-0c484064c4aa CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb0af6d-aaf8-4d6f-be62-e36aea329715 CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 056470a9-331a-431f-b9a8-e1fcdcd7e685 CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4e2dd0c-2e75-4e8c-9777-a6dca87f6bcf CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236579fa-18eb-42d9-b47d-93ab50e89fe6 CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 363344d4-b94a-445f-8fb9-3b59024ce599 CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ef1cc7-79cf-4888-9990-df1175a6173f CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9afbc7e9-1d49-4c67-a1ab-a7bb42b86f18 CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dabf2105-bc48-4735-8747-e4932c51b6a6 CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85dfd16e-da01-4e35-ab52-401ee687c393 CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c98617a-80ac-47ed-b57d-1b650594d112 CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efb20b4f-2175-463d-8544-34fdc5842962 CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eacef9f-2159-4cbd-8004-946c351a7596 CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 276d4c5d-7871-4f82-a254-b49288d09373 CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2cdd96e-c0f1-4b83-97ca-be24ae083513 CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b008e0db-9061-4e31-9289-ea947f6860c0 CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b90a94-8284-4d55-889f-73b9b8ca3e5a CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c8d55a2-0ff1-43e2-8a4b-d96b38d7ef30 CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e20256bf-bbff-4a23-b5c0-1fe507fd34ca CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21e1dd0e-c63a-467a-9b94-1abe9f9626b7 CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ade430-6dfc-4bd7-ae72-8dab088c3c33 CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f2c9dcf-108a-42a9-89ab-cc7cabea3313 CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a2789b3-2d1e-41cb-826b-c3d62c88ead1 CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1bd52fd-d7c4-4ba7-8fb6-d779c15257c7 CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da89998-a866-4d46-87ce-f84e4e16abae CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e46bc7e-3613-43cc-b371-6a1ddfe7bfcb CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ddc595-4996-4163-95f3-f3bd6ff65280 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ecccbb4-4cd5-4cea-91b6-ceb2beb19dbe CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98733c96-04b5-4b3a-ab14-99bc2ff36553 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3ab3943-ad8b-46d5-98ce-69d913b08f39 CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fa7231-a4e6-4821-883b-9fb96558180d CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeadd7d4-0067-4e2d-a93b-dddb9287147e CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d9fb5a-8819-45db-ad4f-288851213380 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c5bfc4c-d67d-4792-abc3-11b63df640dd CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f8d850-cc75-45b8-8b12-cbeb1f4e6f6b CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d86e1a6-bfb4-48e1-bdb2-f648a940bb71 CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f593e83-3f15-4836-8358-000a6cbd25a3 CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 187100ad-28c4-46fc-b114-ffd1474b5f7a CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 382f7715-3c6c-45fb-9cc8-ca43ac33eaad CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5887fa95-88ac-4085-bdf2-488dd765a948 CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6fa7ad-eae1-468c-b5a9-dfd82cb2a8b8 CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ee81ed-2150-4dbc-bb59-d8b830d8c78d CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 111cbfd6-6b4c-4fcf-ae06-a1135283b90e CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98231888-534b-47f8-8314-250a8a5cd553 CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2396150-f973-417f-997c-907c7cbce4df CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e6d614-985b-4a28-9162-4affd83239dc CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b141dfaa-7060-4146-8ae2-a6176cbcfa17 CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 358c9263-c520-4975-9c39-ef16b9099edd CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a78f0db-a17c-4815-bf8b-51a70f22f5c3 CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfa467eb-0fb0-41e4-91b0-e672e7a1dd71 CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3017307-ec79-4c0c-b62f-83855e056cd0 CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429a4cb6-a7eb-4139-a53b-68833201fad6 CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0716f8-9526-4a02-acb4-ba0dba6242d1 CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 040c777a-45bf-4524-8d38-50e5db786f67 CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ed0921-a220-4193-9059-1386c3281786 CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dc2d793-31ff-4c3e-8d91-3576969cf598 CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acad30a2-fe56-47ef-bdad-cb37337f48c7 CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aefeed0-b3f0-4896-be24-7f748188cca5 CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b84dd41-f0ed-4ec5-8b85-2d96c4d7e16d CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21e120dd-ab20-4b80-93f1-55898694ec66 CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f7b79b-2f09-4175-8f5f-8152850307b9 CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd88fdf9-f5ed-456d-8d84-4be7ebf9f2e5 CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3823f8-99df-4c68-bdee-d8be09f7e9bc CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fda190c-be48-444c-a0c2-529f390c327a CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d92531-5847-45fc-9c1c-a20f37e58509 CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8f56449-64aa-4660-b534-e472e7fc7dd1 CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705ed43d-2dd9-44ca-adb7-748cfe91690f CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb21cb3c-dc93-4c51-b49d-652c9034045c CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a41148a-d9a1-40dd-b22c-ee766d1d116e CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c36351-ded9-4175-987b-9ec54e577532 CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bdb3fb0-eef5-4095-9608-4bb1d66b6bde CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7716b508-1b15-44bc-8066-8337170ffdec CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab42a45-aaef-40cf-8d2f-ed6af4b635da CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7af5972b-b647-48fa-9c53-fd3ced21123c CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e541215-7eae-442f-8b64-82d2ae90a1e7 CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff7e4e5f-05c5-4f45-ac2e-30ce997a193f CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57f7645-32be-42e6-bc2c-6125639b32c4 CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1408d15-128c-41c1-ac60-783cdba27250 CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf7c7df-1c66-4086-a0ee-661111ec9823 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce9d491d-4b1c-4917-9767-398f28fce4ed CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9f333c-101f-404c-8d5c-0695b9960cbe CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebd68095-b974-4317-bde2-ddba5fb8666f CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f562fa29-0389-4316-9334-1b7ee4fcf47a CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19a961d5-e564-44f8-9b30-0516887a18f5 CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987664a2-1f67-48fa-8e12-5f604d91e554 CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dfa5814-33fc-4e0f-9f8f-a17e6df8fa8d CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c598218-6025-41af-ab0c-bd28f1c829dd CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 563af657-0e68-4dac-94cb-5eb3bd4ed575 CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15389d8d-b0a4-41d2-ad3c-9c7815bffe0a CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddc01fa5-a39d-4377-9318-d1de1cf66b2a CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ea2cb2-25ab-4f89-8ee3-f017352aae84 CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2424463-f565-4467-8eed-2ee34ad74277 CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01199548-2d90-419e-b125-35b4e7c78be7 CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3ea0bc9-e00b-4cc6-8d94-1bb515b3f6e8 CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d35ae30-74d1-4922-b3f2-86886a8fab94 CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df44703c-1fcd-4635-8826-14ab931840c6 CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ddd020-fb3d-411f-bb07-434f47913535 CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8653dd2-c905-42d4-84de-5415483d662e CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebbfa50-4c8e-40d5-bccd-82c4eb8b00b1 CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ecbcf44-8ec1-426b-9e69-c0cc07b1f451 CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6fdcd5-68bb-4ddd-9859-305af70ca684 CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d95c86ad-ddee-4c6b-8e00-82d95c2bb111 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e384463f-ce8c-4a6b-af5c-b8abd07d22b9 CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e99e0f38-cbc7-4cf7-b52c-fe3d03c54b6f CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5947b6a-75ca-4e32-81d9-46bb738fee61 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d729cbe-a72e-4fd7-b496-66618b68f1d3 CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e6fdcc-8f83-49a9-938c-59b24e78b693 CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9271a8ad-b6f4-4624-ab89-1070b48c587c CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26642ed0-ea85-484b-9acc-339bcd910529 CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8adcdf84-ce26-452c-864d-9b689249493d CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b16ed6-b2ad-4292-8add-59d176868821 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e31f0ae4-1b13-43a8-b034-2e7bbb283017 CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd162d69-a7e0-435b-8d3a-f2fa12dab741 CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c77db0-33d9-4690-8f2f-8bfd6b901e29 CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8c86b1-9eb1-40d5-beb7-5a11c9fac8c4 CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0aa6c61-51ff-462f-bebf-a692f0c29a3f CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01777bc-6da7-4de8-add0-d9906e06de45 CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f93fd4e1-2945-4c7f-b7db-e664165d51cf CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a747074f-1687-42ca-95a2-d10a90ff07fe CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c0d08c-88e5-40a7-8e71-ff0b90c4f29b CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbc609b-6dc6-4320-97c5-e8cbf98190ae CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8764823a-4195-4704-bcf1-398e22febba8 CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd7f8aa-2311-42ef-835b-fcd3638aae57 CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5919c1d1-081a-4b8f-9432-25bc26680cb6 CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5b424e-efc3-4ab3-b00a-983c51da3c99 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9a0c726-bac5-4a3a-9fb2-c958a793c496 CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce2563a-77fe-484e-82f9-e8d18d07a868 CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ecb4f5a-77a4-414e-ae07-81bfdf323260 CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47164c5-a16f-42e8-ba6d-93c82961afe3 CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab26868-3b9c-4be9-b6bf-bec23ce73b12 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45fb1701-1dd3-4bce-9a9a-310b9e3d306f CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3217dc95-2477-47b5-9892-73adcbc7c6aa CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c6d6fb-f5dc-4d72-a7ab-885f15e1e301 CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e07d9d7-0620-4840-aeb3-fb9069b37cad CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e9c831-27db-4ba8-90d2-3b665628beb5 CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4012c4bb-6fcd-4666-bd17-d1a817033d6a CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565fd897-e5ae-4c39-a294-62b2354cb896 CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41775401-69cf-4544-9539-f02e08cc9e57 CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c74b09d-0a46-470d-b6d9-f4809b831f80 CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e23c6067-4f4d-4e9e-9b25-320b84696a87 CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f626c9f-16b8-4b61-8944-c74844b59cdd CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1db61a63-ec3f-4a21-9801-8558044adc1e CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ea4d4c-5754-4451-9dff-5b0b7412bed3 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a612c283-520a-4a1d-99bb-bf084ed809e5 CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2330a75a-11ce-4e1f-90ca-564083462483 CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15a3382e-2dd0-4878-b5ae-95e8e5a21d77 CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5957c0-67ef-49fd-8133-a493b7a69a27 CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fddac13-bf86-458a-8501-88fbaf80902b CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2dde7e-375a-4b92-aa58-19df888a86f9 CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6cc5373-98e7-475d-84af-6ed3d21bebdf CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3431fa-ab7e-4a80-ac2b-4cf82feb3a18 CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c5c7b4-7f34-4285-b6d7-736a594e3073 CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c42b71e-1cbb-4c8d-9b74-8decbf331764 CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9e8f6cd-07ee-4fa3-a817-8d226800c23d CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b55cf2-bb1a-4779-83a9-f8e8c01d0db3 CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d49d6ae-2875-4538-8afc-d6932a816751 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fb30a9-b68c-47ca-9a81-fd80f28ff2e4 CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14c14b5a-4933-4367-a1ab-4e5f8fb28313 CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f090431-8e5f-475f-9774-a174d9e42968 CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbdbad4c-a075-482c-9ae2-a2c134d30a61 CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fb39f2-19dc-4eb2-98c1-e1f12fbc4481 CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 219b0aa6-1527-4383-9a72-71dc244dd523 CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc392840-50bf-4b0f-8381-b897307af918 CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 325b21c4-4444-4525-a9ae-8f5f637d237a CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1500cc-30a6-43ac-9988-7fa7a3e60f93 CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e771d115-3505-4af8-bf00-7798a691fc26 CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9af75d-6b5c-489a-a5e4-fb5133e065c4 CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb7725b1-cce3-4c10-8ac3-d306f711c1e4 CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4482e022-9114-4007-969f-d727bc8ff95c CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37e33583-3505-4b48-86dd-ecf170757d12 CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e485e86b-5856-49b2-9e4d-ad75c69e3c05 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 798eeba9-7f79-4c5c-83cd-cb3370f64e7b CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36e35ea-4210-441a-b355-4db7f16a705d CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 481d324b-9db0-41ac-941d-4e4f5f8cea27 CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c261aa-726d-4a8b-a8dc-a0124ab45cfd CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d1d7801-e471-4868-99df-fb53aa6938a9 CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0655f6c5-78de-4c89-9b90-6f4100f57302 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d323c5ba-d1cc-4c58-be38-67e5773557aa CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7a862e-8fc9-49b5-b0f2-b583c9da9407 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85b5ad9d-f088-46e9-9247-ff9570f8c6ef CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3492b0a-c674-4dfe-8f9a-23edb4a84dcf CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78a1e12e-87ae-4da2-8b86-5188e3b987d5 CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4d2705-7cdc-42c2-bdce-f322bcb03386 CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01aa7ec5-5a45-409d-b96c-da743d42d970 CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b784da4-eacf-43d4-84b4-2d1ea92d8d71 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea4ca872-087a-4689-a672-7aab616b84f4 CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62a730c-3a06-43ad-a32a-537be7b69691 CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54d0fa5d-fbf5-4154-818e-ebf8c51b14b0 CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5f36d4-61fa-45e2-adc7-78f5938069d7 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceb86628-8e35-4213-9678-d60a9b2ae635 CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148855f2-511f-4b77-8d14-ea4044d0ea7d CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a329114f-3e4c-472d-adef-5c660ccc47dc CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7cf572-7c03-4ebd-97a0-b2d237f50d61 CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d48fec-f504-4b3a-ac37-f1e99b42c47a CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b5f197-64ee-41f5-a58d-b4d20a8d0905 CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bce7f133-4d32-423e-a6d9-c80c909c83e2 CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355435ba-86d5-415c-8371-ede46ea84383 CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b6fe0a6-de95-45f4-81c8-e8090f70564d CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfceaf7f-35d6-4203-9537-2f25f8ef8f99 CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62c741a8-15a8-487b-823b-9c7e1bf1703d CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b658f2-fb44-4afe-9a74-33ffaf4c5f46 CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73cde138-ab11-4663-836e-6d759f33c113 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319a0efd-1023-4d3f-b6eb-239da21305aa CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a74992e8-0b6f-4d8b-b108-11d935a923bc CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53050c94-d99a-428c-ab19-2b4f63235b57 CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2c0a2af-406e-43e6-8913-1eb7caed4197 CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11747d64-10b8-4c6c-9673-e31aefe6937f CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 873227df-1ca7-4be7-bc58-2d0e6fac17ca CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf9f24a-eb31-4fc7-9925-c3380200a2d9 CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 666214cf-243a-47c3-aea0-ee437216ddd1 CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b798071-d413-489b-b3f8-cdad9407a44d CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98408854-6bac-4cae-b33e-eb68aff9c1bd CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393fc86e-e512-4f86-9125-3e7968394ac2 CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 587013d8-5f6f-45a7-9fdc-a117ba321ae4 CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6926732b-d4b3-46f5-ad48-e8ed8e1e0451 CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb6253f4-bd6c-4dd7-b4ff-f80a3993c3e2 CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b34a5ce-3038-4d4a-b462-80f967ebe183 CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a3e0f1a-7b66-48e6-8460-d36301ae28c8 CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14746c47-b14a-49da-8684-3e52fa49c0ca CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d57a41ec-9f76-470e-b2f3-2fcbed394a29 CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e64a69-d663-40b4-b250-a11e923ca055 CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2363e30-6cd0-435f-85e6-9127c00efa82 CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e69483f-d626-4477-a597-081670288c33 CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 212941b5-99d0-499a-a9d4-e747683934e9 CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80836931-9185-467c-afc4-e8a595b5c313 CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 676bcb4c-c398-42ac-b3d4-42e61b8f3f55 CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ecf99e8-ed17-40a0-8b3b-4305d15ae004 CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2582154-bbc3-46f1-951f-2e5f4afd122c CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b33717-355c-481e-8719-83e1cbda676c CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 444cf54a-4d69-413b-b717-6240fab9bfbe CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6687e24b-b9f5-4357-849d-27c42f53e4f8 CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffebbd50-b768-41d7-8128-f3d5ef7c6700 CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76190098-1a59-4125-8558-5c31a48c5f36 CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac491124-2c37-4b92-968e-8c968d7c2e86 CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16a388c-2ee4-4601-9822-40abe2d54ba3 CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 963d2ed7-db3d-4483-a0ec-9d17a9811e89 CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb03e496-8a80-4532-a036-a7de307197f3 CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2cd95fe-239a-4f9c-8d3c-2dd96d90df20 CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c6ab42-86ef-49bc-a2b8-488617979152 CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a97b383-3f4f-451a-825d-e124d3628056 CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67797609-625e-4bdd-b991-a776cc00ff17 CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9329341-11ac-4bfc-a0a1-d6fef88603c2 CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be7f8ee-2a56-4d89-86e9-62dcbb7f3508 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2283dc4f-8906-4638-b3ac-63e3d0b26f94 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976306cc-d030-44c0-8f73-c6144fdcfc8e CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 727df7eb-c48a-42ac-9260-72fe9273a3b4 CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fecd3d7-c8c2-4519-9ac0-ace19b807f3d CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13789ede-deb5-43df-ab21-09186d58bcd0 CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b7303e-3bf7-4176-a0aa-bccfd6e9a9e7 CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b40b26-eadb-4e9a-b21c-4c9314c6622d CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61098f89-3639-4882-9c0f-87d41be1ddf3 CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a18ed1c-3b9d-41a2-af96-acc247357b08 CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b5c9f7b-f491-4d5a-a85f-fe0b2c6632bf CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50fb4260-a965-4a44-8fde-f8b55837a6e4 CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0f63e3-6768-40ce-a84d-fc8e70098fd6 CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81f54ef2-27e5-4185-8f53-3c3326c2def7 CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f754fa2-e5eb-4bb5-820d-b3a98a13fee1 CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 407005f2-383a-4a45-9576-7def2c68d99d CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a332d66-d25f-49b3-bd3d-9c0bc5f824da CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40da92a1-09c7-4670-8997-6c23ff0a0889 CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd18307f-64a5-43a1-bb2d-f8608a615c3e CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 153e4702-8f5a-41be-ab07-a41a243fba45 CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1922e7e1-336d-4f98-9fb0-b134e2b3ce32 CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27a14145-b306-4f5c-b9b9-d4f975262ff3 CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9baddf96-c8e8-45fb-b3a7-03aaa4bbe01a CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5536e661-2181-4fdd-a323-6b7e5e0c9cc8 CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5718684-a05f-45cd-b567-b6d9c9ef1ae5 CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54ad750f-04e4-4e29-9213-646be8f96259 CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce7d8b7-3fa1-4229-bd82-f801d2ec32f6 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb6e37d4-6f7d-4337-b44c-18e4cb67c427 CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7528ac-e90c-4b06-bb14-3fe46a9c58a5 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74742135-fff1-4151-a1c4-5642efbb7500 CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0464f60c-7b37-4a97-8304-8a8edd64a9e8 CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 354b1b04-8fc7-4613-9a26-24b460825a2e CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca007bc1-078d-49bf-8120-83cea7f89725 CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 045340b7-2a7f-4058-9b13-c7c31a622095 CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbffd8f-f19b-4985-9f51-92429ef47966 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8666ee2f-eda3-4bb2-ba34-bc4cdaa0905f CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f2f28c2-900e-46e1-b118-c7a7ad370a72 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 779bbd35-8151-4cdb-9966-30439dded426 CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45d4088-f795-419f-b4b4-c3591832ef75 CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12965509-7e2f-46b5-bc33-d31fc9a81cd3 CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6e478c-682d-4414-b44a-cfec7a64919f CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7633200-360f-4f45-b8ba-cd8e99d11f68 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d311c0-6f8c-4e33-a72a-9827343a5078 CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47fb4e5d-1d04-4a99-963c-78bed111a296 CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424aa85e-ecc9-4fd8-ad8b-5d84198eb353 CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f88cb4f6-4c9d-4006-8bb8-d97108e45f96 CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f8eb51d-876c-4384-b3f3-194647b577a1 CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d127ce3-cce0-4b18-8f31-b10bc4ffca3d CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c077e277-2bd4-480d-b54a-aa79ad7a4767 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e7a6f82-217a-46fb-a4e6-5a00668eeda0 CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0a1176-032c-436f-91f4-3910cad5b1a1 CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3afd96d-4e29-4462-8821-5b081b0f8c3c CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ad87c3-239c-46fd-882f-88c9218b8628 CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 907b79a3-5a5b-4aa3-a4a4-31e3117f93e2 CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ad6059-2c04-4a6a-b4e5-5ac5107836d5 CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a24b301-510d-4e27-90d6-62b202853f8f CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd60cb0-f725-441e-859e-c17d7179e834 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1841ca7-9e01-4e03-9732-cebc430c811d CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca19ce5c-355f-4d43-b3cd-2a3a1e61cbc9 CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 976b1c90-652b-447b-bf9f-6279bb8e0550 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a9fbdd-bc95-4cbb-a48d-f2b5f2d32b8f CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d16d5ac6-24b1-414f-b8e0-ba9ddc9ddefa CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f495421-3d24-446e-9a74-c5a244b4e427 CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e8f6ccc-9055-4907-a127-95d1d25d2287 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6362d0-e092-460a-9907-8d9ec4d549c6 CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a17f3de-9fda-4c48-877b-efcea805cac1 CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9eb02a-83bf-4389-b730-f3cb851ef1f8 CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e10da70-6a3e-4ffa-81fa-0f816bd056ce CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5608a084-a04f-43cd-864b-88592c64a431 CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5934548b-c227-40e1-a6cc-cb6ba879d1b8 CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129e868b-1d99-4ca5-8bad-68b1b80cab27 CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 817ec3c8-05df-40a5-903d-ebf98cb38794 CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66594e4c-8a87-4453-a5ba-08f2aba2cd4b CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ed269e7-0a92-4413-951e-1bb456e4c056 CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b01237c-ce8a-461a-b2cf-6fc56a061239 CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc7adfe1-baa7-4436-9713-0c67fbf1aeaf CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc25182e-e634-4454-a865-b21715529a6a CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc63e047-9d7b-4a2c-88c2-42a424828f77 CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e94e80-0f18-440d-a795-5f25ae4d6613 CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 698bacae-b8d0-4624-b805-412f9c1e2704 CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b58e4f-714b-45b9-9998-a0e0774a9e04 CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6ccff89-bc2d-4d4e-ac58-b407fa10106e CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1c897b-85ff-4778-ade2-b2ca238432b1 CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f490a273-4c55-415d-b7db-d29870dc2a39 CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29ca3d7-29e7-4882-9296-902708aa1f22 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f5b1459-59e7-4aad-834e-31003cd449d0 CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d07b9d-dce6-4b2c-a752-ef54bd253600 CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1892195d-8db4-4519-8ad7-280a21343633 CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea2a6d9-f3f9-494f-a715-57098f66e32e CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85988a81-2f52-459b-a074-dab1db21efdc CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ee188e-87a6-4c48-a87e-2c0d027948c2 CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ad8e90d-80eb-40d3-a04f-7605dfdfb6d2 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dabf9bd9-e6ec-42ba-9592-c4230ab9e660 CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25b15dc3-cf9c-4a81-9b29-c0d90e160e1c CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca23679-ae6b-4964-8b63-f80641515556 CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3078ae98-deb9-4b2e-a4ed-ddc681cdf1ec CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447c8737-c522-4ee4-bb24-7d38f6a498b8 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b876bf02-9e3d-45b2-9d89-99b53952c907 CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467f7226-7435-4fe2-8eed-e348615b7ea6 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 829e9f6f-4fda-4a31-8873-cdfb1e8bebb5 CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835d17da-61ea-4341-a266-7e8deaf780c5 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aed3f55-69a6-4efd-ac1e-1b0e250c4b77 CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b69b45-fb33-478f-8b80-b8585e3ac94f CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ada1adeb-7886-4f02-aaf9-945831037e3e CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4607272-af35-4f9f-b79e-1dad77b11512 CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 337a1e35-4e94-48d0-acdf-1d7fc5abcb7a CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2215e459-e962-4a8b-9ae2-008e001b0d18 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a43b7250-7811-41d9-a4b4-085f21b85947 CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88863bd2-e69c-4574-8ec3-685143a5c60c CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4081f22c-35ea-4321-b68f-25dafc1af10b CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ac1af3-fab4-4de4-9572-8bb71cd1d698 CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b10229fe-6a91-438a-aacb-0fa0be2f3c67 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025ee2c7-f4ab-4147-b24f-8a00a701b6df CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 067ed7e0-cd22-44f0-98ce-cb82317a021b CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d120c770-568b-428c-83b2-e70c9cead0a7 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5d01f3f-6eea-4e3f-90a6-c1dc2eb900dd CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87011c4-0aa2-49b2-b97a-c97f1d8fc570 CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f57b8a1e-4b98-4a9e-a58b-ee808ee66144 CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a570364d-8ca2-479d-a1ec-1d7c03bbc8a0 CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9b0019a-71b6-4ca9-96a7-3668b68cc080 CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69b8ecc-e961-4aa4-8ed7-9062d712bde5 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98636f1b-9032-4faf-8087-f2515e7e9848 CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1594f7-d20f-4999-904c-68dc7d7cc3f4 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25c3688e-e278-427b-95df-19a8421030b1 CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f16876-019a-404c-bfa1-5c1f5d8ce088 CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae464474-7438-40a3-9b70-9f595d261947 CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d3d119-9d81-4670-a1ba-0931cddad07f CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c2022f-0b3d-4bba-9136-cf575a8c0c85 CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876ee683-9d15-4cb8-9f73-663bdb9eef97 CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c7ee884-1fc5-459b-a31f-5aa25152cf0b CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978c3213-faaa-4ee9-8b21-4936fe1dab63 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3b6c5c6-80d7-4605-968b-5e13eba98f62 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a6be57-cc37-493d-8214-d57479e6134e CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13a7769b-52da-4f3c-9444-8fcc0fa0b993 CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f2093b2-248f-4aae-a31b-d2a9eecfd378 CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fc007ec-453b-4096-b411-24936aa7d27f CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59bf0da2-52f2-4ee5-9541-90e421ad38be CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa445c51-8de7-4d2f-a09b-d9ff32ea5d30 CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d94a86d-940c-44cd-9327-6e51ed2e8ebd CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f493d35b-e400-47c4-a845-d71b94020bc8 CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe92b8a-36ae-4b7f-b930-638c53544d2e CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 953edc28-b94a-415f-a380-b0d54c836f38 CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55339de8-b05c-446a-a5c3-3f064aed1ebb CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8ad00e7-f1aa-4baa-bd01-464d4d2302da CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578f2cea-b8ac-4cd3-816a-551e64eeb06c CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa060e04-fc15-4ea1-adad-15d57cfc7067 CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e2e3e4-51c3-4f1e-8643-edcdea69eed1 CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a4636b-e96c-436e-acdf-b9b81ca80b9f CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93cfc0cb-79a4-4188-815d-e430db65d114 CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 823a8f49-e2ad-44b1-8d4e-795866403e0a CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f96953-68ad-4ab7-b202-9a33878b7a47 CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dc98ff8-85f4-439e-844c-a1fdff7db0ba CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c468553-2e21-4d5b-91f2-5a224e4a454d CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 386a5145-a05c-4d68-8669-779ec7136b96 CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686afaaa-a021-40fd-ba9c-5d21aa0eb810 CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb7b2d01-d282-49de-96f0-d967c78bac03 CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54b33d5-7e21-4743-ac06-664228150f1e CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa7f8a31-dc1a-4312-9c69-fdbc1a792f25 CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab2d25f-dab3-4e91-a1f2-cf0dfa8e3f83 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e338badd-8a7e-4071-a23c-baa5cdced198 CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d5db28-0852-4ee4-b18f-bcf62aa7587e CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6b7d6bd-cd81-49b1-be5c-85db9f3e8238 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d13fef-c703-4cb8-ba21-df8111616d42 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 554ba0f6-6745-4c19-b9ea-e06ff03d75a1 CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466136db-e744-4c7b-8e73-812c4ae4d42e CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 497a08c6-8976-4b7f-89d7-e2d94e7092bd CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cdce950-f3ef-4137-b8ff-54d33c38aa74 CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7bb2cd9-556b-46d6-bdea-2e756195e6cc CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2c1407-dd04-4708-8696-9c83a309f3d3 CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbe1bf5f-c5c2-44cd-ac12-ac3c5f054acb CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca73fb4-f043-43a9-8970-8770e83cdb84 CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd6c23b7-c5fd-443b-ad79-96601419a95a CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c5d640-ce14-44b2-9ac8-5cc4d4d451f6 CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2cefdac-3630-4139-8606-9ee9d6ab9d00 CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc6a857-6ae0-41fe-8aef-3682e7a1b588 CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5de67b3-4489-412c-88f0-bb26d7860556 CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5c9977-724c-4c4d-8959-523eb138025e CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b46b5321-348e-4fea-9e3e-01d339095404 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a3f8cc-0289-4f9d-9033-ac26f909991f CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f01b3113-21ca-4ad6-94a0-848883bddd04 CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0494cb6-4a4e-4710-b601-6a9af83f143c CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c7cb6fe-c0f0-4f77-b7e3-24b22836314c CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3be7a27-08fd-4716-ada3-56e7a6b902d1 CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6725248e-cecc-4d3b-98a1-f2fffe1e425d CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95216d55-f705-4afc-804f-14308cf0e938 CLINVAR:3791497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b04c35c9-3235-42c1-90fd-3f11d2ff7ecb CLINVAR:3791497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c830bde1-b6b9-41d9-b5dd-e90f790c20fd CLINVAR:3791495 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c10735d4-0172-4c76-886a-8b38839b68d2 CLINVAR:3791495 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34de91de-4ee3-4c3d-9c8d-e585ddfcaedf CLINVAR:3791475 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 019eb5b1-2976-42c6-9bbf-0468bcd2d6bd CLINVAR:3791475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09085a1b-d8dc-4e31-ad15-a85ad61c6dfd CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 659d87b5-7f94-4330-9256-8cec437282c6 CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1984a1e0-e388-43e1-8d18-9cfcc72d3a4b CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42572db2-36ce-4e1d-98f6-a61f24ad4a6d CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63279aac-bcee-491a-a3d8-586b51b60ff5 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f9c1df5-cf15-4e6b-b45c-95e637efd175 CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbf384a-18d0-43dd-bbab-cf3a2cb780c1 CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a2db054-f505-4a97-bc97-596c5b4cd50a CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c63e6441-bc17-4f17-9a06-7e048498c140 CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ceffdf1-f671-49cc-9f4a-ee81eecbf55f CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7f296e-a1e9-4dce-9be2-3e81ea519e0c CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c843b82f-d70d-44e5-803a-a011c6872ec5 CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c89ffe-2a17-4c7a-b859-4b465e3beb60 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7740be27-e7f7-4df6-8415-e0c1b5dbcc33 CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb02f37-eafe-45b0-95f3-8ce954e5af9a CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f84d9e2-93bc-4cfe-821e-774184c55c54 CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f14f54-921c-4917-81d0-cc1d95ce28dc CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa6ec428-b311-4608-ab74-4026f24dac8e CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f306accc-457d-4c02-acbe-83d85e5ff2ab CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 853b31cd-7104-458d-8862-39a7c23cdf59 CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f29a959-dc72-41a9-a925-acbcf9aecfdb CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b79949a-bb41-4026-b36c-73d0ef48a971 CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ab66f8-ee74-4072-84f2-f18c989dbe89 CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdf6d429-21f3-4f25-821d-94716da42dc2 CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b3971c-09df-429e-a608-dbbf2339d366 CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9076d8ee-3a3b-493e-931b-d856b812cb0c CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0754699-79ff-47c3-9669-ac52203b1510 CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e430233-1ab3-4cbd-bbe4-8ef03551ca92 CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6acf6c32-e543-45e0-855d-2193aadaa4d1 CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d24e29f7-6bd2-4c58-9556-731f8ee82c20 CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66fef381-985f-4284-bb50-1da8346f492d CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f82ec3fc-a737-4ffd-b0de-011efbb39d6b CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49572588-41be-435e-909e-8286067cf5b3 CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff89f912-f3b7-4e30-9a2a-2a2aafc36b2d CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f519a7b-0264-4d90-bfed-5c69362c7050 CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2db92576-338a-4aa8-baa2-70a6d8d6d3b9 CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4249de-8b30-4017-8051-193cef740441 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b55de47-e039-4a51-965a-c78dfc42992c CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ea2e2b-2b14-44e7-ab3f-2e97fc740af5 CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 399f1bb8-e021-4958-a155-e9796b1ae2bf CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbe5472-eaf8-4e3e-8935-50983deac84f CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40f1489b-871e-4221-89c3-0d9bd30afe41 CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66316b86-bb1a-4d27-b319-76c8a852937b CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af8edd4b-2063-4520-a689-e15266b2307a CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13bac38-43cb-4470-b1d6-aa46b9820d9e CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea732f9c-3450-4299-871b-56173a639bb9 CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836132b5-4ed4-46be-b47f-c01e4e5c1066 CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f873d876-93ec-45c0-bf0b-54fea9672efa CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc4239e-7e1f-4347-affc-e9937278ae98 CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 153ae5ac-d7ca-4bf6-8255-7dd08962d300 CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22e524e-24a7-478f-8468-68e0b7e6427d CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aff7e8b7-57bd-4f26-a0f4-249c29333072 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5268a60-771a-44a2-882f-5789233310ba CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55c11e6e-9756-424c-850c-9304397be961 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fecba677-d8ff-42b3-b034-58be9ac57921 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c84aa9a5-975c-41df-b323-455fdd3cd3e3 CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b175a4ce-324b-4037-a7dc-9af92a472808 CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c90364db-b874-4368-b894-0f2c51c7b484 CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f0134c-9065-49d3-b78a-826992f24c39 CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fc4952d-682a-4c54-88a1-57b1ea59a8ca CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04230c3b-8ce9-4bb8-904c-51435c7968a9 CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0a4e113-f07f-4a55-91a1-dd84e2061b6a CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a71a22-890c-494e-8316-fa36c30270fb CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c0a3256-bda7-4e7f-91bc-716730cd5151 CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b9ab08-c0f4-406f-a4f8-17408e162ad9 CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b8ea2bf-cdc0-49e1-a78d-8c7d45f53715 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec29bf46-8543-4ced-b216-827e912c9a9d CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2d833e7-983e-40e2-8d3c-52016a7cdd3c CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f141050d-4ca1-47ae-91ee-2b21b2bb694c CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec33c29c-064b-4548-9a44-09d46511336c CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0526e6-0d11-487b-8274-46246ddae89c CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94117978-98d4-4454-872d-7a8a85328c14 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73851a4-eb11-40b7-a498-297ecf7de4c6 CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e3185dd-883f-4147-8f79-ef8648bf8aee CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f59f38b-633c-44a0-9b43-0b02b1b4131f CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38d11845-6d54-4f28-8c8e-1e4706920a3e CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d656ef-0377-48d3-ab76-21612c8c368c CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed6de8b0-c4c6-474c-a7fd-596101ac3bb9 CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865f0640-8bc8-44d8-b102-1e8eaebdec73 CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da01f007-90c2-4f3a-be5f-8ba45ce89052 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8bae68-4e31-4c2b-b1ec-6899e04af30b CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31501d59-e84a-48ea-a1fb-767cdbd40219 CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309ca039-5fa6-4dbf-b9d9-381a7687d6c7 CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 304eb0f2-cd59-4be6-9b15-cdc44834f0f8 CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3e4627-dbe0-477a-9da6-4fc3e73c9820 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15563f12-212d-4504-912e-77dac4047f54 CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cecac5a0-27a8-4ec9-abdf-ea61c49d8968 CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa30f3c4-3289-48f0-8b33-035f9a48641d CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54999bce-41f3-4975-9a58-fcfab995ac56 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae2e5d06-32b2-4683-b772-8418761e2852 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17155518-e4f9-4c35-ae11-b6300a3b8d8b CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d947b5f3-bdb6-46b9-8d8a-5ca96022e4ce CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a481e00b-586d-4741-bebe-d3e88ed67515 CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00ab4bf4-a27a-4228-a7b7-5487af0ba43c CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512fd3d7-2df0-40b3-95ab-e49882a603e9 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d021e94-c057-4727-a134-2b1bcf0b17f5 CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e9fc46-e442-4640-83d8-cc36957a8c91 CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13386286-616c-4ee5-bfad-b670a03bc0e7 CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6478b471-9be0-4122-ae95-1d4e07f432b2 CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e38af5d-fa39-4791-92df-126935598825 CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00695a41-0b21-4ad3-8a6e-e1fface1e57b CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17e4308d-6938-41dc-98fe-bbc6ee48adf3 CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2aaa73-1075-46fe-8ec6-4cc54fdd2f36 CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 396a2ee1-dc38-4d84-851a-98068f0e4a87 CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a42ebe-a3c7-4b18-88ea-bb76d353cd45 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f5b5836-c72f-4f09-8079-62ff51d87731 CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeb51ca-2267-4b86-8b60-bc2d62976770 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c84a858-82af-4212-9714-7c3bfccf2b46 CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59561a94-a895-4c8a-86f4-b48db0ff8c60 CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aeed90b-9b64-4a7f-8e5b-2cbcaa5e1a9e CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea08ce7f-91d5-4b58-9946-3c6a9a79bb5e CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968f92ce-5551-4a38-9155-b5cc6bb44ad5 CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa6f788-53d4-4b6e-8c51-6fec3e4a5596 CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c702f3dd-b319-4541-98b5-5ce24035b66e CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7295b6-2bbe-41ec-9545-816eb78ae69c CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90fa1fe6-68d4-4768-8197-216a6a0074ff CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384f38f7-28e4-46e2-b41b-2222d3d25f6a CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddeaae9e-2d02-4765-8be6-7f6202e09e4b CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fcf147-ce02-4995-b58f-d85954c59cad CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33aacfee-132c-496f-8c48-420fe6035465 CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4399c5-566c-4c92-9e37-bf667de5964f CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39ba3874-2c9e-48cf-9b6a-db32903204b3 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ff2941-6839-44af-b99e-603ea60a3f4a CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d1de021-06c7-4ad3-8b90-b491058acff9 CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25641857-b54d-459a-9876-1304d75d314d CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71adbe89-6a71-4c75-afe3-41c11d3e4689 CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f02942-6163-4f50-8e70-db72e0c36903 CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 508c2b96-177c-4cda-9952-79c5e5456289 CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e678dc10-c9e4-4d11-9fda-591c33b6a9cf CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a2673f8-ce52-4b31-b1a3-296578273342 CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c35285-fa3b-4bdc-8a87-6048214a04b6 CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06235977-3eeb-41f0-a37a-fe9a23a6dd77 CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0385f581-18c7-49d6-8e9c-0cb18b8b38c1 CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62fc0fdb-51c8-4881-a8ac-298777bc9971 CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87852fee-2639-442e-a154-887daab522ac CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54f505d7-cc20-4519-8bfb-6f4755b213ba CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d87546-adcd-46cf-ae9b-40bc20de4819 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c3e07a-e484-46ae-849d-78a59a2982e9 CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0f6e8c-8a51-4754-98eb-a13f1f60b288 CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b83a31e-60ce-4add-a199-cf1d5f8f620d CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3bc643-9440-4f47-bff6-9929bbcd5db4 CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 630d0b18-4963-4fee-a9e8-1c890b601241 CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6ffdf7-ee37-41cb-b4f5-c2b47e8d2d19 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecaa59f8-a936-4268-b966-4034ef3fed9a CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ea4d58-9073-41c2-bc8e-9a49a2b9b4c5 CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 185d105a-383b-4a61-a2e9-01a823f4938d CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4d29b3-dcb9-4334-83a6-75d8d5ad3e78 CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16992841-b974-46d3-b199-445bc2588b64 CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3d67e1-0a93-4741-ab6f-63dcb100fe77 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a8c9862-27e2-48e9-ba31-9239bf82bff3 CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2601e7fd-e34c-4f3e-b274-5f50fe31551c CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 157649ca-465f-4e7a-b6e9-d9fd6749b433 CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6283c6-f9ad-4dd6-86fb-7aa2e253d076 CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38996bd7-4b52-4bd8-8dcd-e890e49773b1 CLINVAR:30006 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49fb9cc7-8c5b-46e6-8d25-503570f2e2eb CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2c31ae9-60db-49f8-95d9-82d2b072f239 CLINVAR:690063 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c482fa2-7a4e-46b0-954b-c3b9a97dac2b CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb24960-a43e-48f5-950b-166b9e2afb1d CLINVAR:9619 biolink:is_sequence_variant_of HGNC:7478 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c2f464-a738-4d00-8628-cc9b3e747ece CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 322b26cb-14fe-433a-aab6-f318d8416c04 CLINVAR:692374 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3fc16e-339f-420f-ad9c-fb3665249a32 CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4fd2ccb-478c-4827-8458-0390a9861499 CLINVAR:155893 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139eae12-0106-4d22-9fd7-4e1df946f194 CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78335f8c-8e44-410d-b59d-849211cb4817 CLINVAR:155892 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd3aae47-f64b-40f1-858f-4540f90ea540 CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7067cac-6269-4137-89e4-5d2c3971a277 CLINVAR:1328561 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7bc04d-5dde-4af9-a03b-180ee6ef42cb CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7173012d-0b57-480e-b68b-af05d6d7e1d9 CLINVAR:9589 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8871ed-5184-40c8-bdf8-cc638da927eb CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddae96c4-41f7-4da7-84fc-667fc2f10a10 CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7adfed-0846-4ae4-83c4-7ae782dbdfd8 CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3873a976-72bd-4db6-8e8a-70635c8cf1f5 CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3a9ec1-dd6b-4cdd-86a7-3f734a34f15f CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be6e74e2-914a-490d-b2f6-fe10cc713bc5 CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ff0c04-731b-4af0-8cc9-3e815bbefc62 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f813aa20-a1b0-48dd-b07b-d0da70fe1009 CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397f0ad6-ec4e-4589-9aa1-76212f82f120 CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b779a32-fdbd-472f-a53f-361e91f0d5fa CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54befeb-3bd7-4463-af71-341bb42d1ce3 CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac6bc358-e7b3-4439-a181-12939d1b32c8 CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8772b656-224f-4eb9-bed1-a05d558e027b CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbf2ac1c-8374-4859-ab56-ac0fa2b8658d CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99e3019-f287-41f3-ba30-385b02a6cbcb CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7ddda44-ba7a-409b-9d56-cc1f80e383fa CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cf0cb5-fa51-426f-9bec-349e1eccea21 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48064e66-fd0d-4cdf-ba21-60a5f498effd CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ef65bc-366b-4adf-84bf-b1ec5288493a CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a3ea2cb-e7cc-40b2-8a71-1dab28df44d2 CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70770b04-7c1c-4e27-a36c-706055d0d0b3 CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f365ffa5-3ae0-4b46-839c-6eedca4bc58f CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7d7a52-2b22-463d-9582-88f24facd2fe CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea93f21-6821-4375-af7b-6c36245de270 CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3ce7e9-6d44-46b0-950d-3cc6682788d5 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c8670a4-2367-40f9-8262-451fba925d2e CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90426819-c9c1-4bad-9dd1-902eafb3ca52 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13eca058-1a4f-4be4-b87f-caaab8687504 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ff7437-9064-4f66-b9e6-8b538d2f4e8b CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4f9b6bc-9dd1-4b23-8d6d-113e50979904 CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2213bd-ac2a-4834-9fc7-743e738f0350 CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bba645c-5c74-4027-82cc-da3955760962 CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605f0d3f-e672-41b9-bfd5-aff67e863dc0 CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 262f833b-1313-4711-a43f-4a4539b1d999 CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d48634-f049-4b44-ba19-4a50e36030a8 CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3385d7cc-3f60-4ebc-b3c0-c7ddb6031a71 CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eaca151-57a9-4ed8-82a7-1d2811a822ca CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2c9317c-87a2-480b-8513-842c76044dea CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905c729e-2094-449a-b5af-74fe47555196 CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f95121e-13c3-4cde-b365-5aca5811014d CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f509f5-6c8f-4f6c-9718-01983a0649b0 CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11cf3547-47a8-437d-a1fe-ed6c308bb76e CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5742fa2-ad41-487f-8a48-b999eca42cd2 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69420922-2dcd-47b1-8e4d-523ebc9019bf CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c4cf5f-ea82-4de1-a7ac-b2969a956613 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c86756e8-d58e-4d4d-9c54-5b7fa0d5acc1 CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f472fdc7-264d-469c-b140-179723fb253e CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6757f016-aca4-454b-9ec1-ce68929f0722 CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17082e8-7099-4c03-85cf-5c1a19109327 CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bcefb5e-165c-4a1d-a5e0-9aeb62bdf4b7 CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1da4d69-bc3d-4a06-8245-b642124af8be CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5913c91-db60-47b8-84f1-eab3ce15e972 CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfdbbb9d-db87-47e3-b05e-95af1772d55f CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ace4219-a1e6-4aed-9314-50b5feb9a532 CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968f2de9-9c63-44d8-b46a-2a41f4a54a9a CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23c04248-c918-408f-9aa6-b7de124d4e46 CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd9fe6b-e4ad-415d-8118-35b22a2b9204 CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e19c3c48-8160-433a-bf5e-6cb04759d723 CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74898b34-14da-4103-a8bb-706ae8abf75d CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1527bd2-e4c5-4eab-82a3-fe10c28dba61 CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88573f2-b275-4702-9b08-97806e0f9f88 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0c38dc0-51bb-49c4-bf15-2a1ce1da865f CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca187517-ac8e-4450-9600-3fd98f89e8e9 CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73f91527-d16f-4318-bd0d-eed92cde5d7d CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023e6c18-6e3b-4573-8eb9-af750aee8243 CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6190720c-6a47-4393-adb9-c417358e5d8a CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af5722f-d096-4f35-ad9e-dbcb2868bf78 CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 453815df-76d9-4766-91c0-4eacd425dcd3 CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76558887-72e0-457f-9cf4-27d2016196bd CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9ecdd37-0ea4-4189-9d15-cac113aded66 CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5be9971-fc18-40e7-b2d2-101d9de0bc97 CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e86ffd01-dad3-48d0-9476-d2c839312cde CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9b2f15-6a64-46d8-8d15-49550c7b7b3f CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c2a14a3-ffa2-45e4-a84c-70b6792073c1 CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbe507c-4f02-471b-b6b6-03fc7f6ea68f CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74f7eb96-f22d-4d80-813c-4cee01b762eb CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae52d87-71db-46cf-af18-12345069526f CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c46421a-ec8f-4b62-aa40-bee66f0cd2d3 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34175c5-6c62-4b7f-a285-fe23bb4b00cf CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21af7953-3a5e-488b-aa1f-33b743de0d13 CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a693efa-877d-4f26-955b-74542496cec4 CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f971333-fde2-48ec-9986-f4c5075de171 CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865f7b6d-dfe2-4b0c-b0f8-29d118de2a22 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef3f52a0-f681-4b84-8705-34f01af801d0 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3efc2b-d0e6-4861-8e73-9cc25820ae11 CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f1f9921-f934-48f5-8b3b-2db86d17404b CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7c29c5-7235-4069-a38f-d3d9098d7083 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6aba9d93-c6ed-4386-a1f2-ccb98eafa55a CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41910dd-ecf8-4764-a31b-29ffb0774375 CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18d95928-6944-464a-98f4-fc4fd52f6a4e CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e27e58f-78b2-4692-9e9b-b145c92b72b9 CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43c3cfd6-9e02-4f46-b582-7e0d5aab58fe CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875c0fdf-e2bc-4dad-b93a-ce359a8f9ce1 CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 844beb97-8598-42a5-83e6-6931eb177459 CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10cddff-c9be-4f8e-95ff-5a4285858a18 CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c4421fc-7917-4384-859a-74aaec4dd104 CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4030bf-66f2-4f68-be9c-a57f565636fb CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e167ddf-0d58-42f2-96ff-d185cc769d61 CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30610f4f-c4e1-4e00-99b5-edeb7b2a2776 CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ea02bb7-c9cf-4194-8f4d-97e164a8c2be CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c8b890-e1dd-4745-8589-1a510b950f2f CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c8cbdf7-a6ed-4b1f-b29c-d67558a73e77 CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062de3b2-e2f9-406c-a07f-71b4ee49a664 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ced4cf63-e0d8-407c-8103-5b8ccdb78c5c CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bdf35a6-362b-4e0b-b285-c259a6fc9bd0 CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6456f5c6-c850-424a-a94f-f0f9b3f49031 CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a0a7da-fbd6-4a7b-a308-4ab02d109fea CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ca55208-69a4-413d-a2f6-f097a94784e8 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc1efd6-475f-4dfa-a97c-4beee243b611 CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fb43f6f-e327-47f7-8392-38a9f70e570d CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00096a8d-0340-45e8-bc93-06e3803e1f61 CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47ecc2e4-4b50-4cf9-a80f-419f1f06afa5 CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964645df-f988-45e0-afa4-e2be436b2f01 CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3da9e60b-d413-4c97-9064-4c1d23722e66 CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc189274-3817-41c8-be1b-4665fbfce309 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ab68851-0a3f-42fb-975e-4b40b9aabb8c CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74b50a3-39ec-4d1a-b1e9-aba120ac83d2 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 806394ff-cce6-4eeb-b570-692f621ba3fd CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f6c9cb-e754-4e5b-80b1-134f2554e4c2 CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e603d2dc-1c44-46d1-be13-d4988d4b455e CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85abe25e-1787-46ae-9a31-513faecc1009 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be7c1b99-55fb-4f52-837d-f1bfd6076e64 CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc78d0e9-e09a-4962-ad2d-c71904b2759d CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b17f0856-62a9-4504-98fa-9a646cf00c85 CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43feb198-287f-44ac-b038-af1ae3648e30 CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7055052-2ec3-41f7-aa2e-b14183930ea0 CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccfbd00-e9f2-41a8-9b03-9c66f1c9b543 CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ad32a4b-1ca8-462a-8ada-b50e0aebffa8 CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce00ed88-2a25-4b81-bc04-c5b99ce0629e CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99cc3432-2ff8-4095-a8c6-6bad607f70f4 CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ba08e8-0b55-4992-b221-7d44839c573d CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d778e5e7-b4e9-4583-ac3a-2eef30734170 CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e10cfd-79dc-446a-8266-6ade065b2198 CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de93f93e-84ba-413e-94c3-f0e7f3c96702 CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256a7c9a-0611-456d-b22c-86c26a1a500b CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c66a8f6-ccd5-49f5-a0d2-1b4ba5f1e3f5 CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1d8a05-129a-47fc-98b4-877248b7fca0 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b52643d3-54a2-4f5f-8681-b543372677ce CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276d79ea-a2ef-45ff-8e74-486c35dc8ad4 CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a31f41cd-c1ed-4bb5-a331-2750c2f13ed3 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ceba1d-71d2-4bcc-9325-3f99ef9df5b1 CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d42b6ae-0c3e-4489-a782-6cbee4590595 CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b30f91-49ab-4e50-8dc7-63632dd38171 CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8abc89-5a43-444c-9476-19d39bdb720d CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3ae0cf-9af8-4fa6-8443-da273ba61f2b CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9189429-0af3-4385-aa65-d7bf448a1023 CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b42fb7-2da3-471f-b843-4db9f4e66854 CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 173a3aca-f5d3-414d-8151-512bdc1357e6 CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4270d7c4-8b4b-4cd9-849a-99c59916c0a3 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 459e9139-4750-43ab-9a2c-78517ab542b1 CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4e3b10-0057-4396-9da3-cd9d5215bb04 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f421c4d-19ee-48b0-8bf5-7df0809bf4fc CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10307fc-78e6-42b6-b8ae-c3a5613a5003 CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0ebb9bf-5590-4d44-a04a-65554f0e395d CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d10e6d6-7159-4086-a9c1-c720bb263ce1 CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98c085e1-092c-4e79-ade0-6f3c33e94424 CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f5ee01-88ac-473e-9bfc-e353db1946f2 CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70aa5e52-1736-47c5-b8e2-3fd1a7399c3f CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5217e25f-169e-497d-b71a-d04f4f36934e CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5db2b41-04d4-483c-95f8-e70c5040554c CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc2579b-f63b-4f5e-a9e2-8b023746725b CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0e428a-5d5d-4a47-b341-efb3e22b3810 CLINVAR:14209 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c2382b-9435-40f3-9167-9ad941e2b71b CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d128e95-42a5-4c94-81c5-9ba3dc78ca31 CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6787f7-3fef-4694-8ccb-0ade602434f6 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae89d69c-fb76-4c21-a936-d1107c1fe5d4 CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330f4e10-8f6d-4a99-91a0-df70b50242b4 CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af1c3a07-eade-4a3f-8c8d-23273322e5f0 CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2684d629-9a28-4c4a-bbdf-200c7053de30 CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 532dfbc6-1b0d-491c-a74e-79380fb59a82 CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3cb307-3a19-4d4c-97dc-386155fa920d CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da518e9-cfe7-48f6-b98b-65412bee187d CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c7e137-1a37-42a0-bdc7-ee74bc6ff4ae CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d9c1e23-a383-42e4-ab50-e521598e2f3b CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a09f30-6335-43c3-ba31-7b1d33d12726 CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc732714-f17d-4962-a91b-fd6a25699c33 CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38483478-7e29-4588-99d1-5ed7ade959ad CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 691c1f17-bd66-43fe-81e0-796729d9daa5 CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7cdfb2-58e1-44da-8562-a6b730504c44 CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a4a53b7-c536-4cd6-9af0-179e5b938a25 CLINVAR:250958 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aade08aa-f6ab-47ee-b04c-0f557b09ee6a CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caaa0707-68cc-4071-8bf6-db5fc6b820fc CLINVAR:3351476 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e57f82-498c-42d9-a1bc-2311af025c23 CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2291ccf8-e8a8-49b3-901e-2d5f59980de9 CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa753115-7cd6-4194-bad1-5c5484cc85ac CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5af3fd1c-4fd0-490f-92f3-4cf04bafe15a CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f47b628-6e7f-4796-bdff-a2ecdaa87e54 CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 475290a5-8209-45d8-a1fe-1cb554770a3d CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b5940c-3dc9-4ae7-bdfc-fce7bf21dc8f CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2de25336-2f56-49bd-a9b7-94fa6d04f64b CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0e0202-27ff-4f7b-80c8-376da35a5e20 CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef9e5e9e-b920-45f8-b362-6fdbe035c1ee CLINVAR:4077388 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39467f7-86a4-4e59-ae8b-7c190d1558aa CLINVAR:4077385 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ce773a2-69fa-42a9-b04b-623c8d768b30 CLINVAR:4077385 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b52114c-6269-480c-971e-68151eb30322 CLINVAR:4077384 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f50d798-fc6d-4f65-9314-c15a162d1001 CLINVAR:4077384 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7eda17-c05a-4294-835b-7b5748fc5c14 CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35343fe8-7b69-4475-92d4-439b551d730c CLINVAR:4077386 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd9a12f-d30a-4e35-9d86-85e3b4ec7e65 CLINVAR:4077387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b70c41d-fbf1-44a5-b42f-d1a757880601 CLINVAR:4077387 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060d96ef-6642-4977-8aa9-5f7e0e3d4816 CLINVAR:4077381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 794b961c-409c-40e0-b01d-d169d0c35c2f CLINVAR:4077381 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen debe9862-af1b-4391-9678-8e471ed0e2cd CLINVAR:4077382 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd5dff6-33a0-493b-a795-1c32bc473431 CLINVAR:4077382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480bcab6-5d60-41bf-9f50-dfcf4b5fd5c2 CLINVAR:4077383 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9fd72f8-c577-4915-a7c9-15386b62df4c CLINVAR:4077383 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb669b3-b789-4701-bad3-d86c4439dce7 CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60714331-30dc-430e-889b-dd1e4d8e58a2 CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22662e50-e301-4d9d-9177-42c2e1f2dfb9 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9330d1c0-baa6-4e50-bb88-3332d8439326 CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a8cacf-e438-4227-82c6-2a20ea6c1666 CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba4b5f52-2578-44e2-addf-04a0b60b5119 CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c64d2b1-724a-4b1d-8f16-dc469578027e CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 510994fa-e1f8-47b6-8af4-0b4ba28485c6 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53efdfe-d55f-40ee-bf07-3f1935a65fa6 CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef27ddb2-2e52-47f7-9b43-f74f6b7050b7 CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e702b1-e7c2-4837-b048-5fce9e954287 CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a66b8863-eb5b-4bc8-8f19-337871e83c22 CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab0c9cc-d93c-4708-9fd3-3543e312124c CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b5a595e-d1a1-4e2c-8b69-4522678db4e2 CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7daa3318-5576-4915-b65e-7862d5716b07 CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abb0c0fc-2f55-423a-bc41-efd9fdea9fab CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de0dffd-4f60-4cf4-825c-39a7bf146d66 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6a1eb89-e4e9-47e9-a890-e0a470ff10d1 CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e80e4d-027f-4da6-b0bd-33924ba426cf CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f3571f-42b6-420d-8df7-0bd11f8272e2 CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75cc1465-4413-4fea-8652-1769b7b540dc CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 365df435-dd70-481f-a2c0-513b08ae75a7 CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89386600-99e2-4555-8e0c-0c16870dc366 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15dc8659-8171-41dd-8fd0-06466de7d285 CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d6c986-00b1-4a1d-a1bd-c09c9f83b4d5 CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 235cd6c2-f6b3-487f-8883-962a42eac9e6 CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1aed159-cd8f-4ce1-9c2a-b03f9c925147 CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e01771b5-7b8b-4c83-a3f8-266116d1f9be CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8589ad4a-0238-4ba3-b9b0-f3d5ce8c3ba0 CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7453552e-8a41-4070-bc40-431e136e1605 CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a68950-1186-4a1b-8822-2f8824deda58 CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45ea7c1b-ce9c-4999-abc4-2abf40e78262 CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1642dba3-5c15-4892-b543-9afcedc4bf33 CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55b39ce4-b912-4038-a2cd-84a7bdbdfe24 CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291e3e37-4dc5-421c-a5fa-b6e0932b23d6 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84605b69-599a-4a5c-b945-9bb049c83109 CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac8c93e-eb41-44ae-ab5e-c86321f6d7fb CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a8ff886-f4f9-4e09-905b-b28efa63db43 CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb34c68-c652-4c67-a28b-8b1d2c19ffc8 CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9929766e-6d2c-4361-a02c-2f3c0f0ff42a CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33faa1d-df0b-481a-a195-0b66319521aa CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f51cd34-61f7-4958-a4c4-24295c9af98b CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b92eab-223a-4aff-a6b2-e452a5855926 CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef79f70d-7166-453f-bcf4-2e2430e29515 CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dbf758-98f2-4c05-8c3d-1ee8f0478335 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a44e359-f690-40cc-884f-d558c3b339a1 CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a843156d-7bfe-45ee-ab70-362c20c51c55 CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebe57d10-580c-4f4d-b167-423080121da1 CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd6b743c-dec7-4809-a0ba-fe63e671c32a CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3995a377-e004-488f-94db-c9d71b7dd492 CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53065ceb-57b2-4a42-b392-58cf476298bd CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0eae7d0c-3928-4502-990f-0a75331b21bb CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f591a1-b5dd-424f-a473-37e21926dfaa CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c35258ba-f5ce-465b-974a-6040967b9087 CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d62703-cfaa-4d88-815f-2368766ea185 CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1dad575-3079-4caa-ad85-16705fb932e5 CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e954b236-b483-43fb-bbe1-11bc56129fa8 CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 131f6ed6-cbd5-4440-b894-4fdd199b1aae CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f89091-5cd5-4fc3-8d5a-d8e6f44f5e69 CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca581c72-f7ca-4e32-a4fc-573799c2ed39 CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af639e13-a78c-45b7-ab84-a824f42a2558 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b62df3f-664f-4913-84be-1d76b8a6e4c1 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd4042d-1c82-4724-8f27-f29a3cb95a11 CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2e00df8-7f12-4009-a9a7-c74b011a9c18 CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f675a7f-114b-4c1b-876c-1b003773386b CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 078599bf-0fd1-4207-90fa-03a1c08c14dc CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5bb425-2342-4451-8675-9d60f500231b CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c76d35b7-974c-4177-b995-230894acb390 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53884a0-12bd-4f24-8794-a7de5feb207c CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c57989d-6060-4718-bc5b-2baa59438d46 CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3d9b7d-7d9d-4781-8418-6f39ea2e3735 CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4cdaefb-a69c-494f-be5d-bb5b844252cb CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45be2592-e018-4578-b0e4-cf5259dfcabb CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b143211-bde4-4dee-8923-2eaf5a9c9b77 CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb9da5c-12b8-4e0b-b6a4-a0354f06f2b7 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8af1a196-781b-494a-ba39-8e68080c7472 CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88bf9e28-9cc1-43e2-8b21-31f0f1298f6b CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b1d81a4-1be4-4ad1-9aa8-4f2502abeea5 CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e36838-0254-451d-8c66-924b863b14c0 CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab419734-918b-4324-b21b-c0542f99abb4 CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc4db28-b66f-4c8a-92bf-4dde28b34395 CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 018811b0-3b0f-4b2b-97a2-b47298e8b461 CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f634e46-b427-4bf9-9db7-e8a0e324d36f CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e6612c-0b39-451c-8714-49c440a1ed3f CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df241bd-8e24-480f-976e-c99cb8f706f6 CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c57de521-c7ef-43de-b79e-80fdfb489878 CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bd4c82-7902-4ca1-aab8-bf13235902ec CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe61fb54-a22b-4121-b9c3-b1d22621f3ba CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7be73b-d9f3-43c3-ac73-d4381d97fc8b CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14587020-349c-4f99-bc0f-b7b8915f818f CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0031dac-b39e-4086-beca-54225ffd1f07 CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c378da1-6887-4155-9e17-7421c23885da CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077c78a2-49f2-41cb-a61f-be473e37bb3d CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e71c99-d937-4eea-9cd5-f9c3d6900184 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9da72a2-2bf7-4072-8543-3de80c5dd945 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac391339-3361-4c9e-870f-d97d35e2e1ff CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a46563-ebc3-4e7a-a3f6-164241b23dae CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0b258fe-7080-4ab8-9f87-a019ddc81ad2 CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113eaaf1-d8aa-467e-b685-cc768ce0725b CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27b882a9-e1f2-45f1-9654-c1aba5b20410 CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b074ee5d-53e9-48ea-bc8f-cd60c586a9ff CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d158bb92-b0d3-41a7-b41b-80b28e27d796 CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fbb201-0118-49eb-b84f-76426cfe0bb6 CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a07a881f-ccf3-4626-997b-2c93ed75b7a9 CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7825cfee-0c72-4bf2-b278-d70d6c065285 CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30d4b760-e95e-445f-9e9d-c20b2dcced7f CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c09fb1-beba-436e-9cf2-e46455f770dd CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ccc685b-1b00-4b9b-b45a-55aee2dee04f CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60056c23-0366-424c-9f5d-f180ee0edd7b CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e32853e-cff2-4490-886e-7b16046bad71 CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb06837-99ea-4ead-8167-cf13b4739c4e CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b65413a3-bfbc-488b-a706-e0e86ada9f42 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6ac5eb-3b69-40c0-9d1b-85bb8afebddc CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff29989-3e16-4df0-8efc-591f0471cb35 CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10433b1-12a5-4a11-9044-967a5dd8da9f CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 344aeefc-5d19-4ab1-acfb-5e673330ffec CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef55b61-5e50-4933-a349-e19792ac88b4 CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5faa8c86-7cb1-41c4-ba18-a5ad371abc95 CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5679443-9cf6-4172-b249-dfcfafaa888b CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d0051a5-3b58-4d97-8db1-801b77c90a5e CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81e9f78-02c0-4cb3-8a17-a233fd69bd28 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca8a42a4-6b92-4e21-8105-9fa14d6d1e27 CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97abb8d-a852-4b36-a4ee-f36ea2f5047a CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e56208cb-66aa-42b1-a05a-0287a8e73c8a CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e2db40-40aa-4ea5-9fb9-0603efeb35b8 CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c9a41dd-d665-4c1c-9634-61ad047be6ed CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bacd374-335a-4cb9-b3c4-2cbcc42c944f CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d149907f-6d7f-4e1e-b907-e5195532ab33 CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c23573-9ccb-422d-b323-030035aa25e1 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b55e710c-c218-4e2c-84b6-49d1a8b246f6 CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262d672a-dbfc-4d80-8b06-495de9b84a24 CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce7eba11-8bc9-4aac-97dd-9e2381fa12dc CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6826c699-1c88-45b0-a60f-f5950b2f3c80 CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 482d0f37-c9f3-4ef4-9ca3-520279fb7ec4 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb44fe5-0913-429b-94c2-8fc82dbd7186 CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c2fc859-7803-4360-b1bf-9e5d9fe1a831 CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22b57cf-45c4-4160-a0c6-c57dce10703d CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff5abf45-406c-4f42-a1ae-407bfcda9160 CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a877df67-8097-4ebf-94c4-ec7e54098dc5 CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21120951-1e30-4281-b056-d832b4b22ec6 CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f294ff-9ba6-45ec-8545-998f4d3656db CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6b9a0bd-08bd-4166-bbf1-c458df09372c CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28aada6-f107-48ae-90d6-a1c47fe4d221 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc2b1237-fb46-4784-803f-83f4e4b2d0cb CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489cf14d-d84b-42e0-a8fb-8e4230527a56 CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9d09f36-8f01-4188-b81e-f892c375c67f CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8fc2a4-ec06-44bd-b47b-0426fe07ce83 CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7e25a53-9f48-438c-9ee8-5a988156bd62 CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc4a06f-b8de-40c5-822a-48e9b42ce577 CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5e4c526-4e9c-46dd-bfe0-bd6eb905f484 CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3e12bc-ba32-48a1-84f5-34a43b910634 CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53dad708-1b75-4bc1-b761-485e0706d7ab CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47ec834-c813-4d0a-93cd-3d899b9fc403 CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f21f128-e4c5-47d5-8e2e-58f595499531 CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694c33dd-4cb5-4b76-9b29-b8d5acf9a3d1 CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11872353-8fc1-4896-b6e7-b96cc0b933d9 CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7746d0-a545-4876-8cd0-833949c14273 CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5dbfe79-af0b-4a4f-99fb-d2035d570488 CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0916746-7a01-499c-9feb-1f554324b596 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18949b5d-d309-4ce1-9cd2-c5c4cf0be465 CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ec79ee-172b-443e-9192-366ce8ad58a3 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1185aa75-8d63-4478-a9a9-ecfd9c84dc22 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c50bba-42d1-4403-ba1f-8fda83d7463a CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f06dcb6-a7dc-413c-ae25-cab6ae449924 CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d704cb25-55be-4f86-b11d-a7fc67a6dc8d CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0064df9-f449-45bb-8e39-81e1d7c0817a CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f720175d-6379-42c0-94d2-3c63e11f28d5 CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f75c7051-1772-4527-a258-04d5882397e8 CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bafbed-8e16-466d-b51f-ee8f13f2731c CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfc28623-4daa-4d29-85e6-288ff113e3fc CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa7ae8a-4402-4e0e-8040-57704521d6d7 CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c60db434-fd4e-4062-92dc-8728e428fcf2 CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040fffd8-3094-4f22-87e1-eb287e10df4e CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc4d6cee-6180-4a0a-b9bd-04b18b718934 CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1ae608-e6e6-4e61-b596-77a982db1e02 CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01b1a677-8fce-4d39-b289-8a7aa7112465 CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03962de3-07f8-49e1-a8e5-d5cc32cab4c7 CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40606124-31f4-49d4-870b-852226a34154 CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f6f7ed-cf2e-4890-813f-7fd10894bc39 CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4697b86c-f5c6-4062-8654-ed5ef776a9b4 CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e24ef8b-d024-4cac-b608-68e681f907d7 CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08ba5c9e-0e10-4dd4-890e-d3c7b09b114d CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b1dcb3-84d9-4a88-bba0-ca7d513acf59 CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9786abd-9126-40f5-9880-60bcdaa727bc CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0101f0-f0fa-45a4-befc-2342157c28f6 CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84f01a11-83cd-45d7-8a6e-826fedaa1340 CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bccddd-cfc1-4c11-8c67-eb2a5b2c4099 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f6affde-1018-48ad-957c-a8f8f72ba965 CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058dbdcb-e846-4132-a0af-53a3362357f4 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7a838c5-a5d7-4f76-b4dd-75c9a2d3983c CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08837fa-cee9-4451-b6ed-28030b6cc516 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c611f17-73da-48f2-b3d5-a4537518629e CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097125d5-062e-4d94-9ceb-bdfec4be56de CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be908147-469b-4bca-aeea-19e7b69c478b CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4826951-50b9-452d-a2ad-c804f63218ee CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5f8f6a6-eb7c-4998-aded-bde8ccd79ae8 CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4024c470-2569-4254-9e75-2998a2350773 CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 617df68d-e42e-47c0-a4dd-d1b2745f7d8a CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90865548-b5f1-4b39-ad53-2800f5f5131b CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 863cb780-4083-4aeb-b566-b493935276c8 CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d748056c-3d85-47a6-9ec7-cf349fe78f55 CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 778c8272-26b0-433c-88f0-b3531f5a0b8e CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e4c34a-cc12-424a-aae9-606da74731f1 CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66f4ef8e-f939-420f-8269-1b8c72e30d9c CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c08aa8c-2495-4b13-af9f-0d8fedb864e4 CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e6bfc84-02fa-4340-9bd7-2f94f5b729f2 CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaff96a2-dabf-4ead-bcf0-c8af95d3b8dd CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0960a3f1-8bed-43af-926a-efc2eec0575f CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8642c131-6b8b-48d3-b03b-eea995be5b6e CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee571f1e-c059-4c38-b267-b050e8fe6b4c CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514a91aa-039d-4fce-ac4b-086bc097e351 CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1008bd19-ac79-43b2-88d2-5f0a0942b306 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b9fcb8-da26-4fa3-afc8-da8417535bdd CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fc680a4-13ad-4b37-8f33-e6d385b70df1 CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd9f1d0-ca75-4e43-b654-dfc94c026180 CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83971536-83cb-481f-b8b2-be0d1ce5eae8 CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a41d4c-7bf0-4b24-8a0f-9ff533b83205 CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 400bc52c-760b-4c53-a4ca-869a6a62c21a CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872df3e1-a1f4-4cb4-a0cb-424f9758fa2c CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62676166-3c1c-486c-ba59-d80fa9c1c160 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42174ec-d033-43d6-90ea-12ae2b65f53b CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 527bf541-7950-4d02-b1a9-c93708b11419 CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56ffdd6-f6a6-416b-98d9-eb75581b341f CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7928d823-95a3-4280-9cee-334fc1cf7800 CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d0107e-b9c6-41b0-af0b-ea924ebbdf43 CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f78b81b-fdc4-4255-9eb2-0948cc99c5d4 CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e76dcfa-c665-4c06-b6cc-bd1f5cc9c66f CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29e65bbb-d715-44d5-81ba-906663bce79f CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0a1703-8f8a-4140-8e6d-98329750c674 CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec11b7a5-53b7-4921-88d3-a2c3e7c294f4 CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031fc04f-75e5-4c25-b53c-51f70c75da3c CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3263661-963a-458b-99c8-3246f490f304 CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd0723d-56b2-4d49-a866-9815de5d9a7f CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 104666ec-9b41-417b-ae50-66ec8785993c CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cb8caf-e42b-4af1-880e-5ac84ad412f2 CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83c98d5c-d3b0-4c74-ba9c-cd4046049a58 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7873fb94-8033-4ab5-ae19-5a3cfd29b2f9 CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8d0d0af-5444-4e20-a8f0-cd946c3575bf CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 697a773a-c76c-4898-b11c-d4961427a51c CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f02fcc6d-f1a2-4483-beac-162e620a9156 CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51824dd7-e74a-4a86-a379-08894d8ad5c0 CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c7d5de4-2558-4da3-9a13-d3458801d0b4 CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d0ad75-f0dc-444b-80ba-78de8436d880 CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 045c480c-6f5c-4665-a0e3-300336f34118 CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba003c8-5fcf-4c0f-9297-6ce99124d63d CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd076543-88f1-4394-9952-97d0850e1d55 CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f97fef3-bd82-4de4-9457-0478b57e96b0 CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47f2a7a9-5433-4d24-9ac9-2ce5ec62c53a CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c816cb62-5f09-4d2f-be27-d7c86b8729fd CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb2a375d-dc6b-4ed3-82e4-9c7d0bce76b8 CAID:CA355946316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb1e351-fd74-45f6-990d-7a6a7aee43ac CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 042dc2d3-d60f-4381-8493-93187c551edb CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd817531-cc1e-4877-a086-d17257f41ca9 CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3570d507-318a-4e0c-a46f-8e039daba21e CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d1d2be-a625-41a7-afce-1caab3f4f2d0 CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f20afc5d-b86c-418b-bbe4-da5a9d05491c CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca3f157-a4fc-4d12-b5e5-d5326668500c CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2373d365-15ae-4c12-966c-85862130a64d CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfb1b05-7ec0-4035-ab4b-2bee486269eb CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 025d85d0-97cc-4d74-a8c6-a4bfd65f98d0 CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35966917-2a7c-45f2-9365-129a5c753988 CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b31d6c4-8300-4a3a-a7b0-52eb2b585aa5 CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b9e859-8671-45c7-a573-6aa2e84f7dd1 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625eb525-fd72-4dcc-ac82-56f97bfba122 CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5351ae74-75bb-4e61-90c7-f69973027dc7 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81b13330-33d7-4d7d-8c36-00243b03459e CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cab67fe-42fa-4b11-95f4-7cf324759921 CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8929d41-68e0-44f5-8faf-5edc1f50e721 CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0763846-0896-4e76-909c-69e0e9a8270d CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c363118-6261-4894-9a8a-c9ba29534c99 CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e57f67-9e7d-4882-9b25-0a4adada8abf CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6ca9cbe-7a75-451a-99e2-1120293532f4 CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f7f033f-545f-426d-9a5d-742b2d096ae8 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bb2615d-2c8b-46be-b402-81f38a833a3e CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f9ff4-4b50-4f6a-a824-2d394631ce88 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebf9558a-85d6-4b3f-aefd-1524a01c8225 CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e597f3b2-0ee9-400f-9d69-a553ba06d2d1 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24225393-4c02-41f1-a485-cbb104e760c9 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2baded5-caff-4db3-9a8d-61be42dd8db8 CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2eb1f4b4-c91a-4fcb-bd2e-62e56374bd9e CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d979c413-6dfe-4f9d-9f70-4b253a848272 CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 970dc764-1f3c-450c-9a83-dfa84d905172 CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40938a0b-70b1-4566-a167-424389301c7c CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b06618a-4960-4b2d-9c72-ee9d4be2e5cf CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3716778b-f078-4d39-8de0-8195dee458f4 CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76f13889-d90f-45dd-974d-de1eb668b323 CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905a1e0c-3b5b-4d86-b58e-b0ddfdf970fe CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45f0befc-1f99-4e46-b354-22574c7aada1 CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c39c0d9-e461-4562-93d4-1c1fbd720123 CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 584f5253-b7c3-4021-8ba3-efea643db02b CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a338d1-028a-454a-b1f5-7bcac1943470 CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea82949-be42-46ec-9a5f-53a48813ccad CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b46739a-8238-4ab1-ab17-4cdcf455e0a6 CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e5b38a1-d528-436a-945d-c11848f4965f CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d40265-56a1-4a6c-abf6-0e28afb94fd0 CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc9cc76-934e-48c6-95ab-db991eeb87c2 CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac385de-9e97-4bf2-b5ed-c977951f3c19 CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52292186-2f18-406c-8224-47358f9aeee4 CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4b0920-0efe-444e-b912-6611c6bfcb72 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a462f619-34d2-4705-ad5a-a3c512bcac1d CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c6f447-b9ac-4da4-bce1-075ad188df0e CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e95ee6e-4134-4077-9543-85238a63387a CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a476ee06-a630-44c9-baac-cd09df6e9efa CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8dde151-460e-4bce-b6a0-59225f91f5c7 CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb531b8-5a2f-4cf4-8220-f301ac3cafb7 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7446f64-2504-43a9-88f7-6d87658de4bb CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0904ddf-4285-4a2e-815f-54e2343969a0 CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21d8fe93-f406-48a5-9905-406656fd84c9 CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2574c4-e6eb-4f85-ba06-106992d7b5c9 CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7a9303f-5441-455d-9726-e62119f1f5c7 CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73980ee4-a2c9-4d85-9171-5c855514cdb9 CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4004657e-6e80-4a4d-b074-91a2a60ca667 CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9cf002-32b8-4bc8-9b22-2db9921422a8 CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72eac91f-f635-4d61-a31b-02b6caca4d38 CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701658ae-53f8-4038-9337-aeb0b1c6b4bf CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75b4d7b4-abc4-4b25-b05a-7c4ced437ae8 CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7941d2f-63de-451e-90ad-95bb41105b61 CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a7a1c0-7822-4ea4-9847-053fff8a5b01 CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d136cb-23d0-43ca-9011-26c191505550 CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2946390b-56bb-4ec3-88f9-31428b1b5282 CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf70f2f-9368-425c-b8c3-459df0f1559b CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 977a906f-ad2e-4eba-9885-0df922d44e27 CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1486650-910e-4c6f-8476-459884c486a9 CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e64819b7-3018-48c0-9a8c-520d6ff080ff CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ac5f5a-a5fc-46c1-b14b-684aaef7bcb6 CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3bee5d8-8a41-404d-8136-f7c03a025881 CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bd4dec-199e-4f06-85d4-3d48fb9e7a97 CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd31e743-2006-4524-902b-e3b1df68d49f CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc94dae-58ae-4c3a-ba65-b08e988c96fe CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6a5434d-993f-45f0-b314-7b4008715885 CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422aa80c-7924-46b9-8d38-1b5513e7b887 CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 684a512b-1b94-4d32-ba60-4812630e3a82 CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968c6196-ee95-44b4-ab7d-7f19a5e7c258 CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed50e547-9de8-403b-9cd9-b05d2a7220ad CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ce5536-99c0-4195-b077-7dfb9a53b9f2 CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33fabb4e-b917-4c8f-aa9f-98a92307a565 CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09adc6e7-f14d-405d-9e4d-eb7fa0484f62 CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc973373-dbc4-4c59-9003-398a1eff8158 CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade5565d-a329-490c-999f-9a0281a848bb CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a24f1ee-bc6a-4ecf-a577-f6c5f21edfe8 CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b62531-a26a-4926-a589-ef61087dba3f CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a7929d-10ca-4f33-a849-02c7289f79ca CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a270fc6a-9f5c-4427-b2ed-cdde8c256d7b CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0472e958-d967-4e2e-9752-3237d0242109 CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dfeb3dc-4429-4a4d-a0b4-cd05212ba357 CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2638ac24-3e07-4c65-8e54-0664b67a270e CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be69ad6f-6c52-41d6-9031-e7d4ffb30aeb CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1fb2f4d-555c-4b98-b493-66f8402e3e00 CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a12d0b-8c6b-4b8e-bd82-c09b106b1ced CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca2ed19-e594-4951-9ea5-ab3465f7e5af CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a0a1da-bf97-4c65-975a-0d0113ea5dc3 CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63800b95-24c3-40f7-8a1b-3dc7cf0e8d87 CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32862bec-4bee-4cd9-aba8-fae2489127c2 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b966f0a0-b2cd-44c2-bb3c-2dcbbd2cba54 CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77845713-d999-4a3d-9773-c1a0d210c606 CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa5d23d2-44ce-4c3d-a736-89130c1a17af CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92fd051-1f78-478d-a0aa-beae2dec6e4b CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc380275-6a3e-4841-8419-7fd2689d737b CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac88a27-c352-41e2-a9f0-42de4eac9a7f CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 589d5f8c-0e6c-4c5f-9496-5a8b86619484 CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5146a8d-113b-4d4c-aac2-b0b2a1c33bde CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeaf0eca-e0a1-4807-b819-3bcfc3656b3b CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b28c9a4-1059-43ef-bd6e-a0d844ba7fc1 CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccc72d2a-de3a-4e6f-9dfb-6f74b13e1796 CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7f8593-ff92-4041-8581-dc9ce372e301 CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddd26591-d6cd-4f7b-9992-d25ebf784366 CLINVAR:1478325 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b937b1-ecfc-4a8b-a943-80c16304d677 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9fcdb4a-9446-4517-9c37-5d4159e42d42 CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e75c709-8788-4df8-8eae-627bc40ba2c4 CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a73026cc-dc0d-4331-90de-1bab4b5f6ae0 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2c793a-b3dc-4b58-b199-d8176a4f6d79 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afd90647-9097-46a0-807a-6e5bfc577ebe CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611b24f4-c331-4cb0-9db0-334a53089e01 CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40384144-8537-49a8-a526-b77f311188b5 CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9a2c6e-77f9-4fba-8448-54293d94e42b CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3489a62-50e9-4063-9336-a183fac6a14d CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb1221b-9d8f-49e9-b5f5-7b2dc985640d CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75d15660-b157-4297-b472-f3884d983da8 CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95499933-5a59-48ec-beba-e21ca49af445 CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 562034c9-4324-449c-bc79-efac4899eb95 CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a5e22e-95a2-4a8e-aafe-1a87e950937a CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1973a48-9c66-4cf3-b768-2f4b0f9d2cd9 CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a5eacf-ec35-4529-805a-050d191faf2d CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5a5b46e-8f12-4c93-a787-c7adcd732a5f CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0019b3-ab2d-414c-9024-7278cd395f99 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f2acbca-e6dd-4805-95c0-da112160002c CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521e865a-d4eb-4bd8-bcb8-37233f206bc5 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ff7514a-9107-4fe7-b67d-8f505a49a0c8 CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3ffda1-2201-431f-9550-e52a474b6d2b CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af4a6d25-8dab-4f5d-bd72-e15be98e3d85 CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34ee59b-20f5-454e-a3e5-0a14b136e662 CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da78d642-e979-4a2e-9ed6-2865ebc0beab CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48d1a1c-6a9b-46fd-b294-2881419ebffe CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9707a9a9-c3f1-4152-8e03-351d470ccc6b CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fe867d-2a1d-4ec7-892c-0160cfdd7d8f CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a01597b-53a2-49ef-999c-1348d1c58c46 CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9859e308-bc56-4ee1-b054-d4655f88b331 CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0982608-27ce-41ed-a9b6-bf35fec5ea61 CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5902d076-4083-4ef1-b226-16dfcb713383 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 528e938e-7ce7-444b-a902-d856910beb7f CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9908760a-b288-4a20-b2e6-98a2415cee35 CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79f39a26-7e4b-4bfb-a727-9468d3de89fa CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92a449f-391d-4797-a2e9-e1413c21e7a5 CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 720e5d45-70ab-4e08-8776-1ac6634df2e0 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517e5ad0-8f1e-4527-9c43-e17b3e055b90 CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acf316ae-3974-4e90-9e1c-0b5036f934e7 CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b83f79c-6a22-4c5e-89f7-c27467a00d48 CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03674156-4396-4e14-8f90-dc9c26880b5e CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26b4ca6-aac1-4855-b62f-dddb565ec4e7 CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5085be8d-017d-4bc1-9f77-a11a149dd4db CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02429c2a-8946-41ee-8640-d82001431b1b CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4b3526-fa46-47da-bb3a-3e4eab365812 CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1271ae3b-df15-4da2-be2d-14e145fa69c2 CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9f7b98d-8d3f-4055-b2a3-7bb6bc4eb141 CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcf653c-e809-49e6-8643-0a4e1c4ce8b8 CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab5d124b-5090-487a-b5ec-f65d08ea8324 CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7382e5d-9b52-4359-a4c5-8aacd7a61232 CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f153af91-fe77-44d6-b607-f437b6acff44 CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b339a3c-e88f-4a98-a8b0-6943e1f6cdfe CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64bce554-f55d-4624-af4f-9f171bba596b CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cd768a-5062-477f-ac89-b9037b8ee7b0 CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23a0fa6b-9ae7-4c42-bf99-9f0881f789c7 CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aeb2044-8b7d-4c5e-ade4-5cf5211745df CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c142bd13-54b2-41a7-a79a-8a13d11ac771 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83eda63c-772f-4abd-9cf7-a4705c3e2492 CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4c9eea6-5dab-4e7b-8fdb-4f8cc11261e3 CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1091d8-0ea4-46c3-a4cc-7b0aa9ae14c8 CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b9b4c23-d398-4a42-9e52-d15bc321a883 CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6699578f-a029-4ceb-a792-ff8c1d2b0bf5 CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 991eb2e2-cd23-47e2-a50c-6a152b8524c5 CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db41672-1085-4e2e-a60f-d8c181cd1172 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb9c61c4-7b68-4eff-9da4-209f435b7848 CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fd080d-5ee3-4fee-a363-700ad4f61de6 CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 296a0b48-8aa6-4d27-bad8-5c8db05468f1 CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385a2f47-07de-4fee-90ac-d34cbf08d587 CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38e011d5-4209-4449-85d5-f280cf8c53db CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5caf8b15-858e-4f70-a7ab-1c27a615f4d9 CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7acb91a8-b24f-4689-973a-2a83cd5f2934 CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b320ad1-76de-4260-a3dd-6116bf348e56 CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 812da9fa-1bf2-40a0-b35f-1390c7c64fe9 CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d054c51-b485-4fa8-b07d-77594ee77bb7 CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3dec226-7607-4039-8c76-767f94e1cab3 CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e4044a-cbff-48d0-b9b3-0c1f0e19d02d CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a19df98-0e1a-4595-a708-5c1cbabc8082 CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c13f4f-80ce-4463-b801-7e6be20c0b9e CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 133aca53-630e-4720-8ee6-17aa2e2cfe21 CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a12f0e4-0f14-48c5-9a39-dbe85654dbc5 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47c2360e-9c83-4ffb-ac8f-d3ea89e8e027 CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288f4676-4530-42dc-9bcd-36cefa46ae42 CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3a84996-0b86-4d2a-a513-cfed8cbb6181 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df3c008-495a-44d7-b1f0-77b9724e3dc5 CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5dcca28-3173-4537-a189-f20024e0e350 CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69157f2f-e802-4103-8617-f74143ed4a7e CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b68de7e-8674-460a-8b47-3b75b99ebc7c CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cfa9525-0812-49fc-8213-e44a3bb43815 CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04f46f73-008c-40d8-bd1b-ea540e921653 CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d25034c-51c3-49f3-a37c-3f4f57cc4431 CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e7605bb-c294-491f-b674-e8fbe261afac CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53a678e-4b82-450c-bf1f-a244ca38ade2 CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65f018f3-7ff2-4c41-ba3c-fe1bd671f4d1 CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14f11be-e1b8-4ad6-a37e-ab6ab785c7aa CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85feaab3-1839-40f5-8fa9-fb68e1fa9a2a CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394937cb-da6e-4641-a82b-85c56d37b155 CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce83c288-7b54-4f31-9e8e-917dd15cd945 CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c72cb78-4e9a-4327-9847-11c5cfd42e01 CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd37c24d-d917-4cf6-a516-bf273f03804f CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8765b247-6a38-4aaf-8ed8-16dbab5b8a58 CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d22db97-773a-42e0-9739-32ead1289982 CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033e4bcd-69b3-45c9-9852-bf249e1e0ff1 CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e9ae1cd-8ef6-40a2-8df6-bc9bd3d1c74d CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb581946-9507-49ab-93a6-e8c984a161a7 CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6523c46-1858-4ae3-b9c6-5acb2c5d3ea1 CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35686071-1e66-49c4-8950-1343b98b5c2a CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e191740-1bfb-4540-a5fb-ce77447f2d76 CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97998e6c-63ad-473f-ae47-ed8d0127752f CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b4453da-ed68-4d2b-88fc-bd6815cf1ed7 CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde43d0d-542c-49c0-8911-65ca4062c6f9 CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa1466eb-9185-4de8-83bc-c359cf8971ae CLINVAR:636136 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72efdd9-2bd8-4807-aa65-cc1aab428840 CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a32035c7-91bc-4735-b432-c4553a64a279 CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e55777-85bf-4767-a9de-1dfaeb2effa9 CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b4cebed-5967-4cdc-887a-1121c6e7efa7 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f141faaf-7d8b-40b9-81db-16560ae859a1 CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55070465-5cb8-4979-a0ce-0682fada25c4 CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6865cb5-8a42-4997-88bd-05c23abaaeb3 CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f4e596b-e3ad-4110-9917-3d57217c5226 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d5a1bb-7eb0-49af-9684-d37cada13475 CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39e6c54d-e525-4720-aef7-7e6c888bb3ff CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b80a2ce-ca23-40d4-b030-115ee221c3e3 CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a01091ae-7374-4d1c-8b5b-a20df5d5ed21 CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cdb121f-2ba7-48a2-b8fa-0610e4272bd0 CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e08c1c5-853e-4e1a-aee7-80003c11389d CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f6e134-3a75-48c0-8e6a-c4d3116cfaba CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12c746e-e7d3-4298-b6ab-40e0522ac67c CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca55a038-1c07-42a6-9b24-f56424a62b86 CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b480a26-8989-494f-89c4-54a1f2b6b96d CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58484587-6f35-43cb-8677-bf18454dc855 CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41648ba6-5d86-4606-8b1e-a8897d6523de CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2179a189-5c6b-477b-8fed-b5df64e3cdbb CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6024b0a-21f7-4d54-869d-f7cb1cdd5119 CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d3ee8b-829f-4121-9f97-74c9bd2cef19 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4223304-6226-4f9f-b14f-10cec5ababcd CLINVAR:692624 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacdfe18-f347-4277-9c1c-585e0fe89757 CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c09de85-66bc-48f0-a92e-5a91138e283d CLINVAR:692657 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98323a98-f358-43df-a421-a8ab1bd078b2 CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c0b6681-c4e9-4363-bf7a-da9f30cdf292 CLINVAR:690197 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47e1c79-6465-496f-bb5d-cd958da2c391 CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b81dc2bf-8d62-4507-9b0f-c1890bab8fdd CLINVAR:690178 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac89cba-089f-42ba-9eda-8572967f4d5b CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def5bfdf-ba84-4f59-b1ed-74cb883e5389 CLINVAR:693064 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7b786f-db2e-4415-ba4a-09d16aa9201b CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e50bd5dd-7ac9-46d8-bb16-b85e4c51ba18 CLINVAR:693105 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce66cd3d-ee6c-4864-8697-ed9e18d23b57 CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a28546d-1ec3-4804-80e6-7ec5b0968c2f CLINVAR:267298 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda9eb54-2123-4021-84d4-1dc339d47257 CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b3ad0ab-d217-4e6f-bdff-c35d56d8728b CLINVAR:9602 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8374076-5adf-4f3f-bec5-1e59c52dac76 CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50419fa7-318d-40a8-adf7-1157f9b6cd5f CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86009b2-0b97-48d8-8723-402af32ccada CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71e14bb4-54f6-437c-ad9e-aa039398d778 CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9703ddd8-0285-4abe-b5e2-13572c364fc3 CLINVAR:425918 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 225bc9de-b4a3-491f-9257-da81459d5f1f CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629c654d-39a9-4d4f-9f35-27b8ef92b00f CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18fff67e-29ce-4c5d-bcc8-14e8cee1be23 CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a5a247-8349-4648-9427-4846f2bdb01b CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68a233a9-4275-4d50-96c1-6d8d1476957d CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4880800-ddc0-4a5a-a1fc-0422e0508b78 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fd32683-61ec-4338-a91a-e1e4abc81f87 CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8614936-2fd5-4e81-91b0-b164939d5c52 CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2839a84-0fd4-4429-a193-d8aa509b28dc CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2216c280-b1c8-461f-8651-297b23d6acc4 CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a380adc4-42b1-4c23-b8be-27292fb58eb6 CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235b3834-5ce6-4523-a99a-e56713131617 CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 642ca0c3-0b7f-4def-bc65-5169f00cb2fb CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8ed9f8-de3b-428a-92b4-bb07ebca8a94 CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 529875ad-7d13-4bb0-998a-2c4a0f63975f CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b9a5e15-157d-456c-85a4-4e87d566dd42 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c95c7691-6505-4cd0-89dd-64cc54c93ae5 CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8545a1b-0ca9-4fec-a801-708ccc4310e6 CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc723212-0041-4fde-a8ae-6a3493d9b94e CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca0f353-1221-4fcf-b79e-f2684375befc CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fbf895c-8e04-4d16-a206-80e335c4a9f7 CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7c80a0-c6bb-4436-bc9e-ad28c8883118 CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fde8d648-94e4-425f-b568-a7a714d32f68 CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6585ac-994d-411d-91e0-e44354cb67b1 CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70ac1da4-227a-4cb0-9aab-26323fccbe55 CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37db3db8-1da8-48db-bb92-4ad8978b2196 CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f8c68d5-a6d7-49ad-8b3b-e091b9c5c7f5 CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba435c25-385d-4f3b-90ed-0ead78961b93 CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba5d7244-cbcf-473b-8292-d6348d118470 CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7ece9d-a9f1-4581-a6e1-49b1051a60a7 CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 106c9d9a-bb55-4cb2-ae7e-d6d8b04fcc84 CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9073cb45-601e-4a25-99e9-8f737c2cd16b CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7693b911-7fdb-4e10-9435-629d17d9e790 CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd66c0e-76ff-48a7-8c3d-d436bbe96078 CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06776826-64f1-48f1-bad6-e6b400c593ab CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5b9423-5654-45ce-8a7d-e8ad6638bb4c CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8cb99b3-45c1-434a-92de-2196728684e1 CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b41c996-d64b-49f6-8835-793c22429b76 CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 492eb766-59a2-43ad-a48b-06fef578a012 CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce41311-9caf-492c-80fd-18d4e64d9a75 CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 744f0042-f25f-4842-b1a7-f4083a84b52b CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739f0708-b0f9-4190-818f-38f04c9bdf55 CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cdb04f7-8dba-461b-9eee-d53187e5c821 CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb1fe00-d373-4100-8ae0-d645077b79da CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc97bca-8756-4218-846c-c7e43a2004f9 CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002e0fcd-3c0c-416e-ad7b-37605f4d346f CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8dfd807-04f7-4981-a4c4-903985be85d1 CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e62c10-fa3a-4849-abdf-4343454e0ced CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b0dec06-589a-48ca-8dc9-5870640add1b CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ec2162-9919-407e-88dc-1e25f22f7c00 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8ae5db2-40f1-4430-9630-02da945d6e48 CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610796cb-ce90-4f3a-b56b-4e57a892287f CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a50ef03-a6aa-4a4e-9751-05611395280d CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fcc236b-228b-4f27-b247-a25f54369ad3 CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9c75c7e-fcaf-40e2-8a92-0be47b65b39f CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b18a7a4-e431-4a91-993a-545c676e3bc6 CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68ed231f-fedd-46b7-abcd-757487b08734 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3f9f3e-5bdc-4524-bc9f-9b9762a833d1 CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3b59174-ddb9-4f59-adb5-c2738fdc7548 CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e822d57a-870f-4283-9be3-417df6f451fd CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa45a480-b27c-4096-87d5-a6a3ec3b69e8 CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ddf444-b88d-49d4-a026-edd9d10e7804 CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d6c4c2c-8131-49c8-a174-3bfe1535e561 CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7738f7c7-5714-48e8-bb43-d299618a9585 CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 254703f2-ce65-4a97-9b6d-2eeca2ed2ca5 CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 908fe66f-5a82-4db5-b6cf-8fe1499bbd3e CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c17e82cf-d57f-459e-ab7e-430e7caddd27 CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2346bb2f-da5d-4bf9-98d4-b65ba665d8f9 CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 522b183c-b84e-4959-94ec-e7e3c2c88821 CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c370d482-a6de-45c5-b7c9-d1c620d972d0 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4348c046-0f7f-41b0-8750-eb439723dcfe CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8c84ec-a8b7-477c-8b9e-db494cb65c9b CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6701a4f0-1fb3-41b4-bbf3-54ff5d7f7cbd CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb89b6d2-67ec-46a7-9063-63ca37464d0b CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e7d3cf0-64d7-4fae-9cb8-0c0f4f86bdb5 CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d6ee90-7a0b-4393-b0be-3c82cdf8a086 CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fdc19cb-53be-4695-a45e-1a188bd3ed04 CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2240179b-0c28-425f-8414-de3bbeb310ee CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99b6b60a-82c9-44a9-895b-af3fc734ed56 CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e56d223-cda6-458f-8b68-6e5d953cdd2e CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 935d17d3-827c-42f1-bea8-409cc0539e67 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2310280-e535-43c5-8da2-fbab817a22e3 CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34b0f7e6-3366-4f79-acea-7986c47b952d CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22ad686-29f2-464a-abfa-7dd6659e1cc5 CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58421ec7-3a61-47ee-a1c5-a7dd874c465f CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a18ac0-bbaf-4a43-bf3a-760c016672f1 CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed20ce64-237e-4cc5-bfbb-967895ffb16a CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4bfd23-5b7b-4775-99ad-010c891af35c CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613099e7-e317-4a27-9437-d7da90240c75 CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672f6b9e-19cd-4072-9797-36f1423b0403 CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2ae0f4f-6f0f-4b4d-b9bf-63b128c903d0 CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96797ba7-e455-4fa3-b133-fb751c731580 CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f681e7a-fc6b-4c0f-afe0-ce712dea9aa3 CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88969573-a9e7-4466-8bad-22f5a85c6720 CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3e1a1cf-6ddb-481b-8a11-fdfa0c3690f4 CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78da70c-e74f-4a55-854d-23603c210334 CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19441067-2084-4177-9db6-6091a6ce630d CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74be6f7-03de-47da-9ec1-8d97b0305a46 CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31cb2ff2-cacf-4fe4-b9ff-16cc3d834303 CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924067b7-5770-42d6-848c-22e1038505b4 CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d77f1994-0652-4629-af7a-3e7039997c3f CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1745463c-07ad-4f5d-8a49-8f591fd7a5f3 CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 165d417b-1613-4c99-b963-6cf2a6cb32aa CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9033f0b2-5391-486e-9ec5-662f179440da CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2617be4-8198-4640-861b-13842f4f4c4a CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047fac61-615e-42b0-8f2e-7bb22ace8e0f CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d77e259-839a-4001-8941-23e301375ab8 CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dad49d-4015-4d92-ba5e-3bc178797f4d CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c79f6ad6-7fb9-4c3a-8186-85494dedaa1a CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7eec603-bf9f-44e1-a100-b9d97c68a5a6 CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a77bd56-2899-4f54-9f89-3e4d5f66622c CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41b1be4-4fae-45ab-a7a4-9ea8565ffd4f CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7ac5048-fc46-4dbb-9d95-5ea1cf09eddd CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5de11a6-6ecb-4f81-b7fd-75c84709d3b6 CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e06827f5-a279-44b3-82aa-429d05a6f244 CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a42b405-c3b1-4c15-9447-bb28ff71c24c CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24455590-21e6-4d26-8c17-3bce2f7cb710 CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd6d3d3-dcf5-4403-afa5-9a1779b41e2c CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c49d5c8d-8bd2-406f-bf4b-e41109b1bfc0 CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1868f52a-133c-4fc5-b6c6-1462c7768879 CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6c888d5-ac6f-44ce-9f27-bf127cbda3e8 CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfb7c48-3471-4d6b-a1f3-0b4e111465b4 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1493643-d105-4e45-a466-2a7662048b2c CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f46019-dcf8-447a-8dff-da52401969b2 CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37281b5b-9be3-4ac7-a4fa-235d6ed01c00 CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4abe79f-2f53-4b51-9d28-de94e0f1c716 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca390e58-38fa-45ba-891f-bd7df7c10a52 CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c213464-efd2-4c35-94f7-890c822b35ff CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0939fac6-c7f9-41e4-ac13-0d689ff3f0f6 CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6229f0-d737-4748-8041-f211926f20e4 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac843294-e53f-447d-afa0-039908bec724 CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5914d958-85bd-4e12-a55e-d8aa3fda7b43 CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69d646a5-a709-4e78-8319-980b40ff2bd7 CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71561926-38fe-476e-93ae-3070ff94e126 CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac7423ba-afe6-4cf6-bc88-29e5272a1ba6 CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44cf7f7-8d6d-41ce-a252-d83099c6cf90 CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a457a2db-80f6-4e1c-bafa-7d6f70210f42 CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6fa522-ac4e-4826-8df6-c3e9265a0a38 CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c928427-d4f1-4c9d-8f87-46e2f8e9c981 CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45814d13-3b34-4b6a-868c-fea44ad38af5 CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2de97e5-c1c1-466c-a619-47e0ca594040 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01524ab6-79f7-4e82-8b26-c7ba28a30f2f CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ce6487a-c33a-4c32-88bf-c91be293156e CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ad38ba-64c9-45dc-ba16-251e067c78d8 CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce30465d-5ed2-4546-8aa1-a7e1fab40ddb CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a92bc1-9c33-4405-9876-3b259ca3a590 CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15dc4924-59fc-4bf2-9423-7d0822c63d4b CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b80421f-55df-4270-84c3-d893b828a461 CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 726e5182-02e2-4757-b9f6-0bcca7f64b91 CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb58e2ef-b68f-4d85-904c-9cbbbb657ec9 CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 081c7223-c789-45f9-a99f-2f5168088888 CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10cb69f-089f-4173-82a2-680f9c4eb239 CLINVAR:4526408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c115c25-0290-4d48-a5f9-8403d624f13b CLINVAR:4526408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5230ee-6497-4407-9c82-5b209b5f0afe CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e39cb34f-dd8c-41da-8807-2ebdc1b0a274 CLINVAR:1337271 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c6f26d-698d-4aff-abb2-a184b3480e7e CLINVAR:4526409 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3569dea-54f2-4f09-9f0d-f2ffed7c7fc1 CLINVAR:4526409 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3653011d-ebe4-4040-90ab-330676b633da CLINVAR:4526410 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 573e4aaa-fd31-488c-9e6e-2a03a79c9294 CLINVAR:4526410 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f128ad95-9cf7-43d9-adc4-f48aae1699c4 CLINVAR:4526411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c99f961-3d2a-432f-acd0-ecd88f1e2cc7 CLINVAR:4526411 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b165e1a-d3fe-4319-9f03-63f0a957a523 CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55e70c56-2435-4a02-8f4d-5e0f3cb48f56 CLINVAR:4526412 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb449bb-d084-4d15-9b0e-2618e2439ca1 CLINVAR:4526413 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c27f7d39-fafd-497d-9a80-24b2b90578fa CLINVAR:4526413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ef39cc-a5c5-4b3a-b20b-248174361241 CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02ac2665-2547-420c-a9b2-690035c678dd CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b17002-5ee7-4eef-9e2d-087ef3ab9710 CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6671131d-37ac-43e9-b72a-d553380ef4e3 CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb02752-870e-4e8d-9fef-6f8d2c7e42bb CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 886f41a3-5740-4901-a728-ab312b6bef29 CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d6e55c-aa37-4f51-8be2-626e7a33cc9b CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b386581-c0dc-49e0-9e19-0c9ed3a25702 CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26a2c6d-98e3-44e8-b0b9-1ef85d1c1e46 CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91ea1b59-dc2e-4c81-a068-1337dc0c905a CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef58d36-11a3-4daf-9f47-25c04674403f CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7fa941e-231b-49ee-a226-7d3fc9a36379 CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cea9966-4969-41a6-a637-27da539dfaa6 CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d127386-e70e-4b5a-8f8e-2d040577e803 CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5839d8-eaec-4ad6-8eb5-c933e0804351 CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 761a38ba-882f-49d5-82f5-88dcedf4e124 CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9cea05-d8e3-4abf-8b0b-4ad0fff13931 CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 969b6e74-d7f7-4fb4-b0c4-4178063a33f4 CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9c70d8-2a76-4d03-9a3e-2b565eaa4303 CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddf373d3-ecde-48f6-bf59-0357057bdabc CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e357df-b49b-4cdb-8ea8-caf1bde3ecca CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46ad43d8-c218-4d07-80a5-99de08aa4be4 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb09b548-34bf-4424-81f7-c64ae649ce84 CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e8ed735-d387-4dcb-8c31-c7cc42f741ac CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd33e35-b0bf-43ea-a1eb-8f3ef54150ef CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c83bd51d-6aad-4ddd-ac3b-d87306fa8c87 CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b51ffb2-ed69-42e9-8ae3-6849d2d5c378 CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 446d8f5b-c024-4c5c-9232-27d91ef1bd81 CLINVAR:4281695 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be40e5c9-3cfc-49cb-85cd-899a25383041 CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a030acf-cf2a-468e-81ca-4038398a6830 CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603a5c0f-8c31-4860-a194-4d99193e355f CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f7ea264-bf1f-4511-b6e0-f45a34be2886 CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7976e492-146d-4523-b84d-0f1cdd8d8173 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993a8679-acb7-4cd3-99dd-c1d7a53fbace CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05269ce1-91fa-4191-be21-4045c040f2ff CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f23e0c44-c9df-438f-86b1-ac7c59e06e29 CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d22fa94-a5d9-46d7-a9ed-50073e4590b6 CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 359e6e71-e958-4cc8-83cd-5f2fb4dfc762 CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3cf67d-ef35-42e9-ba37-10e31cd4e92e CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 672371cc-140c-4ff4-8fb6-27741b4a1e0c CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7164ef2e-b534-49e5-8a8f-d867bd6d8388 CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe84859b-9a06-4faa-b367-4c47eff2a65a CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9defb1f-2776-423c-8b5e-5c8e43ed6b96 CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47700adf-121f-49c0-906a-fdf89bdb4bc2 CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe9dfe0-b78a-41e3-9f5b-f51451f6d263 CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84df4e2d-cb1b-4cfd-a582-6eb0a8edadbc CLINVAR:1454754 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44121b6b-222e-4714-9796-489a15ad1bd9 CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8920e60a-7ba1-4a92-82af-f6031321f255 CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d46b39-6a90-4ea1-8b65-dff3e294e1ff CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a6f8d90-a0b9-4f31-97b5-2abaa16000c1 CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea0cd9a-cecf-4c83-aa2e-f5949d0dc9ec CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13d5848a-b5e6-4399-86c1-66463f6302e1 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc5d202-daf2-45b2-950f-6f0184a4f6e6 CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5cb2c54-1944-4621-8497-68cf06d858e6 CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb54a01a-2bef-4a51-b0ff-9a8f2a28ad98 CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db4072ef-56f8-4267-960f-5d863ddb8c0a CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3f7e7e-3abd-4da1-ae9d-b2ab45a8ff26 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 953ee8d4-3453-4c54-83dc-2e50353cc89c CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9046241-f934-42ce-8ee1-750e7dc706b8 CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d529ce7-7fa0-4bd1-aaea-b2628b9e017b CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4644de-97e3-4de7-b479-4381caa65f9e CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58208641-184e-4ee0-bf0b-49c6a8bf37e1 CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6108fd-4f24-4de5-a767-f8e326f23f9d CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 843f3bf3-21bf-4004-bc5e-29bbbf20c89f CLINVAR:155885 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1036803d-cda6-428f-a9f7-21efff1ed9e2 CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cff3dde-90b3-4468-bdd4-e8a5dfd9b5b1 CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81fd5ac-6d54-4ef8-8e40-1a0128373c94 CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03643f83-cc36-4f28-a7a9-83788f45e1c7 CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c121899-46c4-4d43-93f8-3b0955baaa75 CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0599470-644f-49a5-ab3d-4b788ebd4dc5 CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bf5bf5-de68-445c-abb8-258c915df1e9 CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04e6596d-36d8-4afd-a0c4-fa76dddd0b31 CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31b0156-e447-480e-8f6c-7f5c9bc51ed2 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60516923-9f67-4c5a-ad4f-b8220090b072 CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21f103a-3675-4203-ac5b-869d5d17d071 CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae1aacc7-49f4-4a59-9592-8ac115b4ace1 CLINVAR:9623 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233660b8-897c-439a-beaf-6782a17fb939 CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2529daaf-1681-4e52-8a01-05bd67ef770f CLINVAR:30000 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bf7350-b6ef-49d2-8085-c92f07a52a02 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99cb4661-d982-4a1a-839f-b96873689f76 CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a43dc0c-5d0b-454e-b79d-98df5923ac78 CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dad299f-b0e2-44c3-9c94-29ea0b7a855e CLINVAR:690211 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bff262-88ce-40f7-8d93-ac4711b97e67 CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30502fcc-17a7-4fca-bef4-421d8dc2814f CLINVAR:690233 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3e4394-20df-4913-902a-82faa0dd6dd7 CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b7b71eb-b640-4f8d-88dc-0f13731a8571 CLINVAR:9614 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c470ef-16a0-4f30-ae6b-82461a0ebc00 CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c278e50-784a-4963-aaa3-bc33bd917c66 CLINVAR:9621 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482fb968-3f47-4c12-aa7c-1bbd6bc5943c CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5795ac03-8c76-4019-87b6-37952817db32 CLINVAR:560167 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08c7a91-6fa4-40c1-bfc9-92816d4191d1 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17d3baee-90fe-4de6-86ed-6611d62af10b CLINVAR:9574 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03532171-101f-47de-b80f-1b11cc0d7706 CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e051f5e-f270-4e71-88a6-085bcf282ff9 CLINVAR:9577 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccced224-a107-4d49-a81a-72b6318a6ee4 CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91f5e7fb-85ee-4747-a738-a2792107788c CLINVAR:9585 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be94b985-839b-482a-b366-c1f35a126b98 CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7a29855-3a90-4b51-af6e-e03313c9383a CLINVAR:690084 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55304056-d3ea-4a77-8790-43fff41718f8 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 539bd339-4e85-44a6-9f91-fd0a286099e8 CLINVAR:693047 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942c51e2-3e0b-4fc3-ac27-269169a7603c CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 122e8592-fad1-4efe-a665-935f79096022 CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40442694-e8a0-432c-a750-4b0fa7f54e3c CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 112bda15-c324-4671-a839-a83f348d0d34 CLINVAR:692427 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49cefbd-4ca5-47a6-868f-2d9bb2f4f517 CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5c41866-5042-4827-ae11-d40313725ac9 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9dc9d4e-4bf3-4709-bbc5-c75388ad7416 CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09a6a4a8-51d9-4240-bd99-6c50a87ed02d CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbcbc487-b312-4f67-b5e5-1ee5e3bac814 CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 278b65b2-b753-4e0e-b584-ff7d439d0003 CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6086e16e-4ded-46a1-84d6-565b034cd812 CLINVAR:692717 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc5ce37-93ab-46d8-bfe8-4d129f7ddac2 CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edd6036d-2af4-47ff-b52f-fdc36b7be5bf CLINVAR:869395 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc2a03a-c71a-467f-9283-b926fb31a4a3 CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 806389a7-c979-4b5c-9de0-e0160c1ef6b9 CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26062340-0d6a-423e-8d60-f57557d330f5 CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e1d0a23-9664-4787-8507-5316185848e4 CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 427c1052-6c22-4ef5-9a57-7680fe57460b CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dccc56c4-c173-455c-9384-c5ea8636e4f6 CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be164a0-1892-47a3-a5f3-763ea90783a9 CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c115eec4-b860-423d-b20c-3b7d544d2489 CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea8d403-1a17-43f3-9380-6cf7e47e7484 CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e462a97-acb1-45a8-886e-c03aecb23f72 CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a82532-dad4-4676-9128-30d19173e6be CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 898a2c29-a9d6-4db2-bae6-21306ce5624c CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d9147a-3779-4396-ab28-8e04b4e2baa0 CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d50faab7-f3c5-4632-9276-3177b472dedd CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d557ee9-1d6d-4fcf-aaa2-91f50a7a09d1 CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 933ec999-4a41-45dc-ba20-9337ddbbce5f CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae11d27e-a783-4ddc-83ac-eafed3bafc66 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3b09a3a-9f00-4f42-bf21-5675039063a3 CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b712d27-dcab-44c6-bb0e-1c360ae31419 CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 091f240a-c81a-4c97-b753-281ed026368e CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5bbf04-3247-4e9d-9324-3a8f0f03afac CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39dff9dd-0622-42e6-ae06-2e4b8f4134dc CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbc38f9-232b-4ee6-8803-a02538db9f5e CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed1352f3-cbdf-4a28-ad61-cd384198c575 CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68cc0ab6-1396-4a4d-a6a2-643d794ec2b9 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ada9e40-dcb9-4cac-8561-0c719b0d2878 CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd6ba86-ce5e-4554-9c88-450ff722bb17 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c1d6305-2ce3-4412-93e0-877a1a08a758 CLINVAR:693512 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebd0efe-6bbb-4310-9e4f-6ad9479ee931 CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1ef6160-10e9-4d95-a2db-eab6d1eae19e CLINVAR:370052 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7282b8-ff9c-4a6e-8f2e-5a9a20957c47 CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22f11e84-993b-4ebe-bcc3-25d76105301a CLINVAR:690112 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81794a0-0759-41c3-9207-dc2898cb596e CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74ac9439-a60f-47e0-b795-5f5b4e00c235 CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8c4f7d-f0bb-4f14-be8b-c91454f36577 CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6eab28cc-3c99-465f-8346-ea8525e60f54 CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be32a821-e3fc-499c-926b-f562a9dcc6aa CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92b3c34c-4574-48a1-bbfc-6d12666c0ca1 CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ebfe44-396b-41b6-8f6e-98e55397e915 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98942581-911b-4b39-901d-3f7226aaa784 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a0af83-2d4c-4385-8159-c4f3e283ded3 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 918033e5-5668-4d0d-8c99-589241c945d1 CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953f90ad-86da-4498-81fc-5ca525f26f00 CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2fcbf52-b3cb-4abd-ab97-7117d1e1c044 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd45287-9085-4edd-bb5d-dcc9ed9c6621 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c835caee-ea5e-4832-acdd-0624c29d1108 CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98683f1d-8d56-442d-b971-ce64c779e109 CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63db7985-7321-497e-966f-0d6ba7f19617 CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5343b1d-12ad-4fbe-9c0b-63110a9becc4 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b7792f9-0432-4362-af3c-033e9c474f5d CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a0b29e-c877-4312-ab6d-d939b5b41093 CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67299e49-e3b2-4fd3-932c-c6dbfdb1aee5 CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea4e358-7af6-4d66-b5cc-65ee0254dbf1 CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1565bc9-1a85-49fa-b67d-f945795c7927 CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d012b3a-7e54-4ac6-b4ae-4a9c5e8ae374 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49071e9b-8a09-4006-b9d1-fec9116cafcc CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb4f0b0-11e2-4779-8b5f-f320d66f8c46 CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bca4e561-ea22-42d7-8154-290ba61bb32e CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184043c2-7e6f-4390-95f2-1da14a981a87 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05ab0758-8021-4e79-92e2-a10ba5a5cdd1 CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e08831-2625-4109-a660-41042758f945 CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06db07bc-0dd0-45db-81c3-b358a6edbb99 CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608f4919-1b89-465f-944c-2f4f3a485c76 CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf7b3d23-e263-4774-9469-15a2290deab2 CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 648095e3-ca2c-4536-ab8e-8c317fa2e1b0 CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c045fed6-0571-4e18-87e4-a93a5f93034b CLINVAR:9678 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35eef95d-58a8-4bdd-988a-4b3d72c1b60c CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdc4ee86-a971-4c1b-b689-669c32cd14ab CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954e84f7-9fd9-43d9-a38e-702871646b54 CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1f63457-b443-44dc-903a-39cdc3baaa7d CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ffe475-52bc-49b7-a41c-0931f086c872 CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecc141c9-e69f-4ce7-af32-59ba231a0c94 CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de01b46-d4f8-4c1f-a137-520d13746ee2 CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb05a6de-c80b-4c66-856d-b9b98629f88a CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dae3f82-5231-4645-be0b-1d129612c930 CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8b31f71-16a9-4eb8-98c7-1857d0ac789e CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f0999a-e76a-4357-a145-ef72d8be5ba6 CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deb4d639-d801-463f-8cf0-23e0e379a8ce CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96d4bed-2645-44f9-9e1a-81c8aee59635 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68fa004e-1c47-4e0c-beaa-c74eacae45d9 CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a0d7c4-4ec4-4b66-8644-56b2c650140c CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 624b35e7-b7a9-46d3-88b7-2cea02ad3318 CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3b4af0-1841-491b-9b2b-a511fa007aa6 CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b73cef8-3bcd-4be5-82fa-d94a3153c4b3 CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7576779f-2e0c-4da6-b319-f244b34a5ee2 CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 732ff87d-5a75-437a-9dae-cdf091f30605 CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b875aaf4-532b-43b3-8105-bf69484a2672 CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 818f09c4-84f2-4528-8862-c6d39cfbf942 CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94049290-ad06-4f6b-a34a-c2604fe4ccae CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90c0ff4e-e17a-4e60-b556-c827b231922e CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d70b549-8266-4e7d-b7a0-38719024e588 CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ae1c38a-fae4-4d52-9a69-80a0a8399875 CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b162a3dc-9f36-4a97-a51a-92b09e20b8a1 CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5cadf72-bb97-4fe5-a264-05ee6eab5440 CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9a3b82-adba-4c67-84af-57886bebfae2 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d5f5650-3f39-4c09-b19b-ce32d1c98abf CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21dd8f56-98ac-4cfe-a56a-38ed356bf1bd CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 341c3b7b-2912-4c94-ac26-b297ca872790 CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b3eb7a-b4a3-416f-9679-bcb72535043c CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0e955b2-7940-46b3-b353-306f8008e431 CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c69815-44a3-4f5e-ba21-3ee19479f7da CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26592196-2c4b-45b8-9b49-8400381419b1 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce4f72a-323f-47af-be7c-7e78fdd7253c CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b90dfb17-d919-4166-a14b-9ac12bc60786 CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49252c96-7cb8-40d6-95c5-3f9a93c60ce5 CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d67ab3f1-270f-4914-9d48-8c46cde9a7a4 CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675fce5c-ee0f-4a6f-ac3f-2fd20f4cc551 CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c19f28c-c75c-4a11-93ed-44061adb0a8c CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954a848d-a4ff-4573-a870-e9590f4f1867 CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55ddcc4f-7102-41ce-8188-e1f17de2982b CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1762ffb8-af51-46b9-a091-5d2a15b08fd7 CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3961ab4c-e957-4386-bbf9-7da38ad75afb CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d0740e-3dd8-4edf-b037-ceabbfa9cec7 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 871c4fb6-bc14-48f7-a104-a8f48ba0a6e4 CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465a25d7-d73b-4d3e-9194-adee894facf6 CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5608772d-9486-4049-b480-6f09b60897a7 CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e902b58b-9d50-4704-a8ad-315ccf6efda4 CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23bed3fa-1147-4a64-9d0b-6f20eae356b1 CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458db8bf-1354-4933-9867-99a40c9cd019 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2a8f2e2-4fc3-46f3-8f15-45104c1488f5 CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77de738f-a97c-4581-b704-b4ca765901ab CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 297e344c-f6aa-43df-9397-30f9c6c0753b CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83283dd8-8850-4262-bb13-15ee0d173e50 CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cc9f69c-e15c-4b2c-a2d0-52a1c0fc5304 CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80278c9b-03fa-447f-908d-d32ef26a33b1 CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4a7fafa-f9f0-4873-8b50-1f6292d17622 CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951c2daa-a529-4a07-a1e5-022359350a92 CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbb86546-4555-42a4-b74b-b5a15fdc4c0e CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb918e6-7544-4535-bd52-17249e804300 CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80486a9a-3f28-4a93-8427-8214df1050ec CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360ab8f8-0279-442f-af9f-c4d194b37b06 CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 913dd075-636f-4056-babc-18f8b97d3595 CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81b6dd6-2eb1-4f7e-89e0-aa2300699083 CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4eb55a0-c493-4857-b41b-992dd3609103 CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b3daa1-e87e-484e-8196-67b5148e53a3 CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6287b575-fb6e-485b-907c-2f531ee633ca CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0698d6e1-4cb0-4d5d-9364-dc53539e88a8 CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 410170e2-c290-4ed0-8320-7b63db243682 CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f264fc40-de78-4321-a9bc-1d2b7ea073a7 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 986c88c6-2c4a-46d1-8d54-db1ed38ce49a CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2386d73-8345-4855-89df-29e6ce97f093 CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 275775f7-7268-43ac-8521-6d31c78046b6 CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ec7611-cc00-4bb2-917c-153cf0d5fc57 CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0cb3b0-73e2-4803-853c-8e33399c4dcc CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6385b6-1ec7-485d-844f-c253aa191634 CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c92235f8-e520-445b-bebe-c5a81632e1be CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c897b97c-4bc1-4c0f-9044-7e60cf9c0a32 CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73a47dea-4490-4e71-a004-6c4ce86d14dd CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2579645-c54a-47e8-9fe9-ccb6fb7d9dbe CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89e68c73-d9c6-49ea-a10f-80fde5b366ca CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9de2ed-23b5-463f-b789-43f97a8c0d44 CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8851fe33-abaf-4a25-8aae-d868d2e8eb4a CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aeaa058-fcaf-4084-aa27-1a789bd5dcb6 CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85b40bba-6501-496f-8b79-a13b3876fc5f CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eceb6949-641a-4bb5-99f3-25239488fafe CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b6fd11e-4ba7-41d7-9b2d-a3fbd974f53c CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3e4924-2e05-4348-b36d-98dd13c1673f CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f0ba60d-bb80-47df-88e2-33e647b2af8f CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175cc2ae-d20a-487d-a4b7-388cbab03a85 CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 107a0a9f-8d2c-4c5e-9bb3-9e47b0b39302 CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec26e6e-4e00-49a5-a5f3-5de1506c5c6c CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c23a2349-e1ac-47dd-b508-c64d131dfec9 CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839962bb-b635-4e34-9f1a-8f09c0729805 CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 982d0e98-0b97-4172-9ff2-a09ab03c7bd1 CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d88d31f-3e3e-4be4-9c62-09f88c9f6ded CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8614a496-3b4d-4e7b-b97a-d31f3cf0f763 CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb60bad-d926-4553-9971-31744aff4a6b CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51cc0363-247c-4211-862e-a58b251718e7 CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a3b034-3fdb-4a3c-a53c-ac1a9803c811 CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3701701-de6e-4e52-a6e0-29d5a87c7723 CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff4c53d-570d-4315-8bcb-f20111fbe7cd CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2ca05b7-24e8-479b-9f5b-adfa9ae7a365 CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1fdb3f2-46c1-4852-9317-b607046efe5d CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6631dca7-5340-4115-92f1-dad9a45080a0 CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52654ed0-5767-4ebb-b597-865c1f797a40 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4aeb6952-0797-4371-ac3c-3f12c94533d8 CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b605c61d-762d-421d-8424-cb132f9067a7 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb06e47c-4244-4b4a-85ad-55384bd4ef59 CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f0844b-8fdd-45f6-83e2-d48451c26c97 CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0a06463-f6c2-43db-8ffe-ea4f23702d03 CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1240676f-d964-4424-91b0-62d7465451f8 CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6fb3c43-f9a4-492b-8795-ad822ac4544e CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424aa5a9-0d2c-40ac-9d7f-cc7eb87e16bb CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca03eab-9926-4e92-a5b1-a1a73dd5e94f CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3495a8b-8b84-4a13-9f9e-0023273a871b CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a82e6ee-394a-45ae-b02f-d70533cc546d CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cbc075-42ee-4584-9228-9d559e343e6a CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fafb40c5-192b-49c5-9873-ea3c1c460244 CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836b1a43-737a-4103-9bbc-40c62e7c1be5 CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a87e221-2654-425b-bb14-6108e5a2a786 CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257505b5-b8d3-4e38-bef4-dbf2c09e9ab6 CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f2f4507-93f7-4f05-8ae6-9810b74590ad CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d42e817-6de1-4fa6-94d5-a2d807b7268f CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 832e32e8-858e-41d9-a4b7-ad3335a01fa9 CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235822af-88f4-43d8-85a2-84c4be628eda CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f3bd075-e73f-4836-bcd6-cc15c9b38ca8 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d57fb2-e1e9-4b82-83cf-e112d6157288 CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5195ae93-b636-4e42-8a00-b9b49c6b6350 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba808bb-7320-4c72-a5b4-100b4bc62d31 CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dbd9090-f59c-4080-8a81-7d5316ffe705 CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2d9677-d074-43db-9770-fd4e14e16f93 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14c882da-4745-4112-a59b-ed9b0edfa063 CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9ddd8e-467d-4b47-8cb5-fa4b830b8002 CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e7589f1-d669-43ab-ba60-6f870614677c CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263cb4db-af95-4e5f-9c4d-c2854afefb7a CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8a428d6-6ad6-41c1-b92f-d6dd0b7eba11 CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3274176-0b4f-4a92-b52d-c1a9be26a97c CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b73a0e64-b880-4711-aeff-43dcabbbd24d CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff69ec5-d285-4b51-ad69-91e68ba020c3 CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7679bf6a-cafa-4c7e-b8d7-84130f54817b CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b02a90a-4136-4183-a300-1446878b9292 CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c317868-c03e-4655-b474-2a4080859be6 CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9ac902-de53-41bd-ada0-13cce93d6538 CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ab992da-5d6c-4ad3-a86e-0d29faa6c6b3 CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457c4623-563c-4ba7-b9ad-5714955a79da CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c510a139-eb2d-4003-87f2-39a6e9376206 CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3464d243-e557-4072-b4cc-5df48f5dda56 CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 045070c4-f0dc-456e-9b4f-aa7b0efe318c CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e9c211-4317-4d18-9196-d1d738839992 CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4770377a-92fe-426d-86cc-3bca4568eee8 CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad3246d-ccfd-446d-8318-7d9f1411ef72 CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2060aae-858d-456e-b784-0fd4f4ceb01a CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c33452-22b1-40af-bc4e-09707995747b CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a41c8d9e-6353-4069-8ab5-ac898918c676 CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429146da-6a1d-4b91-85df-8f08012d2a2e CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb9c3e53-04f2-4854-af1b-d29c58d2d937 CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad17e337-da5a-47c5-a14b-83481796815b CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33721626-3906-43ca-9c79-757e9f1f3fe1 CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0455ecd-0fba-4de7-8d93-c945dfefc750 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b4b545-86b3-47f2-b311-bf218c5b2f59 CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f75bf4-0121-4527-a905-e8f820a91463 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0101588e-2be8-4cc2-bae9-96d3aa0f3c80 CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e52bca-70c4-4eca-80e6-77e1dd49f7b3 CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9feb35f7-f083-4caa-8ed1-7d8752b7a399 CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c947345b-3942-46f6-a392-4da1b1ed79f7 CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 685fe5e3-235b-4432-8467-da2a59eb9a65 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b43c63ac-0be6-47d8-a1fa-590ce351b309 CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82594c8a-bac3-4c0c-9b25-a5489f0aa017 CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb08115-e402-4459-8320-916a73167c8c CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39709b20-449e-4ce2-8235-2298f7192d11 CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98b501db-2f91-41bc-b27e-3e3b99cbe07e CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b2e4cdc-386f-472b-8e8a-a83819f81c9e CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6452eacc-bf31-4952-848b-92d6e4aafe44 CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59f7b15f-e85a-4e46-9367-4732339b12f3 CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1898e654-f83b-4ddf-81c0-1a9bee9fa167 CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9a64132-ba41-48d2-8d61-1d36169e2a8f CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7602df9d-dd7b-41e3-955f-cc821e37084c CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76bda586-5707-4a54-a885-6fe021771837 CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95adc8c5-9bd8-4a7e-abc2-0aeb8d4e224d CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f4f44e6-1473-4082-a7e5-f5f390bb7b7f CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023c79fa-4528-4623-a257-2572e5b39a8d CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb464c6c-4a45-425b-9f2a-b0d7537efd1a CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01104279-7bcf-4c73-9b8c-021f20f91002 CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28576d5f-7a5d-4abf-8729-496396177c4d CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fa4c0d-a0ea-4dfd-bdcc-a83b2cf2f547 CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 629ce43e-7d5e-4058-8577-6387a713a0a4 CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a12466-13ac-4464-bcb4-b086e74bcb37 CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70c515e0-304d-453f-848e-ada8871c9ac9 CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1988532-83b5-4d25-8a57-c56ef55db6d6 CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 990795a9-8e99-4d87-96fa-a8085556a0bd CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3180e513-cef1-4412-82ad-2079e84f6965 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbc346a0-fc6e-4f21-b6e0-1833e0a9927a CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff27f95-944c-4cba-a1a8-3742e8097ae8 CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e76c639e-ff02-4adf-8b34-c345305a75b0 CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f4620d-b5ad-4fd5-97e7-c00d9a44d25c CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5c53c07-e2ce-47f9-953e-5edcc3a3fa3d CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f11eaba-efe1-453e-bc33-46a2aa5b11cc CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 205a59f7-22fd-4e0b-b670-ae076abae4c4 CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28695229-cbc1-48df-9025-09f1a3dd3036 CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 290ca768-4a7e-4370-92b9-b863da25a563 CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 406c2f31-9764-421c-b89d-c126ce9e4d66 CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0beb32b-9e31-4753-acfd-ab251c09c8ff CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b37808-ab7a-4eaa-b1f6-59c579744f6a CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4565729e-ef9b-4045-9163-d027b412e675 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f733a04f-5b03-4a7a-90b0-798913869d53 CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5087fc53-edd5-475c-bf31-7b731dc3fa40 CLINVAR:3777763 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7143000c-9ce1-439f-8d52-7341a11577dd CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80988482-86a3-452d-add1-955f9232a662 CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47741381-1070-4100-8112-d1ea69968ed5 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8fd3327-c1c2-474c-8f81-b621555db69c CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd2c27a-023c-49f1-91a4-6611f6c6120b CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62093bea-6eab-43a7-89ff-8cc5f8a2e9ac CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215dae3e-e47a-47c6-9b1d-138b5c9a7fe6 CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0420159e-256b-4b52-a9da-83a4be817dc5 CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30978480-585f-4676-9d73-ef6cca32d224 CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2da0303-480d-422b-9808-17960a048c5b CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628bf3b4-eb16-4419-8e89-43ab6b8bc387 CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a61c4aa4-4164-43cb-a929-f0ea813e3453 CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7944c64-6814-46f5-9201-00e7a74f0b4c CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8f5807e-8fbe-4e43-b7a9-ac3be2c96b6f CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feedf15a-f157-4453-91aa-62c89f1de001 CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cc79a5f-cb65-49ea-92fc-ee11d7c0559e CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f629ec1-e4ad-4aeb-b7f5-3f03c43c3dd5 CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 455d36b4-1bb7-4dec-ae45-c2f656b9004d CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b829f87b-07b3-48bc-9d27-558df7ffce5d CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c399be1-0b70-4951-b19f-63e76bc99898 CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe71090-1f1a-4580-85ae-36a4c7a71856 CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b01ce08b-746c-4b28-b896-485638859bc6 CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ec2f3d-b074-443f-a654-6eca200cd016 CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3fa3d31-0a16-4971-9e5a-ae85a3db6b6e CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66270e05-8ed4-4ef6-aa2e-f90debf6e561 CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82bb7e1e-3099-4942-b013-35d7bddde83a CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85bf7b6d-ef24-4c9d-8ab1-5bc2f6a79f0b CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a574f91-cbef-4e6c-a655-14b895e6c54a CLINVAR:693061 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932bc20c-ff99-4bfe-ab92-6a11cba8047c CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb613b7a-a2ce-4ae4-b6a6-19273c2d6326 CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbac4f9a-a19a-432a-aee5-495a904b8085 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7824358a-c142-485e-8d91-f3273d9881a4 CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf76635-c248-407b-8e22-7931a4584558 CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fea10f9-befd-43c3-8aa2-00da0c788cdd CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7fca6e5-8807-4880-88fc-5c3a332a8c22 CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6e8785-4ae4-4a57-b9a6-1e34e5e241a3 CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7b16d3-8a2a-4b57-b968-aa53242b2161 CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 202e719f-8c67-44bf-bc19-284ab41b22ac CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3291399f-449d-4eee-8428-4c51bb77220d CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5413708d-cf1a-4712-b0b1-eb9dcee384d5 CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920093fa-456d-488e-99e4-23ff804672f5 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa86addd-da6f-40ef-858b-6cb09f5c1984 CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1e9f35-5a3a-4c4a-bf6f-00daf757ed8d CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d10c1534-7876-43ef-bc74-451401c6b413 CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce3990a-b4e2-47c6-acb9-2c82da956c31 CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57b40064-bee5-483b-86a4-d0d189475139 CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2a6aec-cf64-432c-a927-81642fe7ecc9 CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ab768e8-5357-427d-8a28-abef1daafa83 CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3d7339-4217-4bd9-97fa-16b75f107d65 CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65d173b9-6846-4c35-8c5c-416db6284218 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675e5a16-ecf7-45cd-8ddd-6399ba3134c3 CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c0faae0-37a7-4a36-962e-879afb75d19b CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9256ff3-f85f-41e3-bdb3-83a37b493065 CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd8fe20e-bba7-4cba-ac36-5007cfd4f832 CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec33e2a-e03f-4d56-bea2-548abbb8cb21 CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52de38f2-9555-4276-9e1d-08f091a42eee CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b805e5d2-7cfc-425b-a4d4-c120a086a472 CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ed0bff5-f1cd-46bc-81ce-84f2923fe1cf CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc8a379-cf25-4857-9498-5881c2a500b1 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75c0b130-c0af-4af3-a01c-91820f44d3cb CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f7e07c-442a-4a8f-9fe1-68230560aa95 CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e201dc0-1653-4495-ac55-ff881bb62078 CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c54df9d-1fb0-4705-9edf-e353be7442ff CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0550d4-62b8-4322-a7f8-d96d22c7d1cf CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8e4588-87f2-443a-b56b-782e70b8783f CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17311616-8df7-4578-8518-c1c06502e9b9 CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b25a58-248f-4361-82aa-deff1c956504 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01a3d1c3-9dbf-4ed4-a5ec-2b274815a427 CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a32cfe-e6f3-494f-9028-b33a37ea807c CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 694f8fad-942e-46a7-a55a-48de3687be77 CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e68390-95bf-438b-8df0-254af111790d CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1c649eb-1184-4dbe-a7d5-fbc68e2664c0 CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37aed828-0680-4fd1-bede-4f998015e2ae CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de3d93a2-5116-4e33-9ab2-99230ad8fb95 CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9340fcad-3775-4907-a3a1-4f15fbc41abe CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd687587-dea8-4581-a2c3-2da2e9f3169c CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674d5aa1-01fd-401f-9746-18ba9c52e413 CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0068d85a-cbde-4aaf-878d-57b18c6bfa96 CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdcbf54-db39-496f-a3ba-e6bfee763657 CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71cc3ecb-527e-4dbc-b23e-97f485e1fdd9 CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38cbe99-d45b-4bbf-8c56-0725c49b1377 CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f07b4ec2-eb0f-435b-a33d-75a66719843e CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff815769-e1b3-4142-abd5-d4b80e5a9977 CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07b8425f-80d4-4155-8154-46d4c6f19069 CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa57cfb0-7a6b-4f93-998d-acee9c56253d CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36d0dc63-5913-4a22-a38b-17ee6c4a8d2e CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b78af4d-5127-4184-9714-23eddc31a564 CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 237670ff-6b6c-4f1e-bed2-557aaf2950d6 CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097e852a-f11b-42cb-87a6-dc41e729b683 CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc757f3d-faec-4f0e-8e92-451010001705 CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96113717-cdec-417b-9457-d776eeac854d CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 005287aa-7c1a-4b08-b105-cf7449b9c765 CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c522a92f-f1a2-4159-b827-3f8650e0b696 CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8e234bb-4cdd-4f58-a819-b730d9dd4cf0 CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448701e7-c25c-4758-b096-7210e2f6d7d3 CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d253c801-91ba-4ec2-bfed-8a8795f3503b CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b374be-99be-431a-9f4f-2a36c85f836e CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 592af8bd-97b3-402b-b3ca-33626cbf9f3a CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94d7129-c86e-408a-8d88-3a9b3f0b72dc CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6307d231-553e-48c6-a640-cacde52cc20c CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46f692f-96b9-4bad-9119-a1c499d2f9c6 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cbe7926-4ba3-42db-9255-e4f507a99907 CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df857fe8-ccc6-497e-b007-7d9f4286ce08 CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84d0faf3-4f19-47f9-8b18-524937a7a5dc CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c352da0d-a603-4b8c-ad13-f71e4021308e CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26b0e86b-0e89-4277-9a85-5c89d05e3a4e CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc278749-e3c1-4701-b426-90c663400215 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cc804f0-7f54-4747-8820-4885c215c8b0 CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eceb2d8-903b-44d7-9771-54a44906e837 CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c95fc051-de08-4ee3-be74-27e3d034b00f CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a466dd-4554-4f1d-8180-9579e2674666 CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9348db-b3cf-4e22-a3a5-1e2b35bc6d70 CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e4bf24-ceb9-415f-abc4-eabe6d9c524a CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e2f9f77-d8b4-4739-8d38-d795367a2c5a CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a871f76a-3f91-423f-817a-e9101d7cf4f8 CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f38bab-20a8-4fda-b057-5b884cca4508 CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef5c43e-ac0b-4026-a1fc-029c8da80d1f CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ffc2080-656d-4352-900c-834efbfadddd CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7104af0-bcdf-4c80-b5c9-eb7368ff5153 CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 635cddd6-89a7-4eaa-9da7-78799564a56b CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8aa8b22-1bba-453b-8d3e-70b3935f64e0 CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02fc2ce1-3f07-4910-a73b-a5d1301d4478 CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9cf16d-f03b-49f3-be5a-84c51a5b96d2 CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 899fb803-1d36-48bb-a859-9ccc077adc83 CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39024cc2-9e56-48aa-b92b-acd6c10cb3f9 CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7951068e-8cc5-4d91-9272-85368a53fdb2 CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93733d25-103f-4631-8e53-e2c3c9b2a06b CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ae94c7c-9ac1-4cce-89e4-efd4b563b271 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5336a94d-0ba9-4d8d-8814-b56d320bb85c CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92c3fcfe-1be7-4095-9d5e-328fcb7031d5 CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f390e7e-a8cf-40b2-ada1-1f0a7b3f8ea5 CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4bbcb11-ceac-42a4-8c8c-217b1df9287c CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15da343-37ed-4cb4-aba4-bc146b431a81 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d09aed8e-3717-4aeb-88b6-883dfc100fec CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b131e6-afb6-45c5-bf50-1f7b5937ab80 CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25d2729a-0f9d-4abd-aaca-c8594f57a770 CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f25bb12-c9b7-41aa-bca0-c6f3e5705286 CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aab10fbd-3319-492e-ba79-6ab51ae7e4fe CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fa9a68-0727-4d3e-b238-1cbd5057c2bc CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67570f18-b51f-4671-88f5-de13f85c17df CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3d563f-b668-4c27-a98f-9f099dd2bee0 CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5045391-e00e-4571-bdfd-7eaee63c19fa CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801f7ff4-9cb2-4187-893e-e3d011e84bae CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9736aece-420c-4010-9d69-68ce0c2e12db CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4839cb28-8d87-42b1-8dd0-10c21dc11757 CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1982866-34ea-4e01-828b-01ae217fc339 CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238f60f6-c1e5-4e8d-95fa-ea09fad71b70 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abe9ea57-7344-4617-bb76-63ca9c70944c CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829367da-7a61-4e6c-86fb-4178d1f24a0e CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 671861a4-9942-4e2a-8b7d-9d4a9bbcabec CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1529a27c-4ac4-493b-b1d9-140fe50ba0d8 CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4f764d5-ce2f-4e0c-8ef6-d42a63db6f11 CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e3a563-6bfa-4207-9b13-aba225c6bed7 CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 764448ab-f7e6-4654-a98b-4267a58ed3b2 CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb6255b-7b4c-4419-9789-a3cd6d3f63ef CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0ba56d0-f848-4d99-822a-016617480c01 CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd7216b-8e06-4fb5-8c29-21675dace168 CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91ad8681-8cac-4bbb-adb9-1446e36da4df CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen debeb0a7-40ed-44e9-9b1a-a73713f97090 CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b2ecaac-9bc9-4a93-986c-c64bb5afbfbd CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f640d4-6b6c-4980-8ff2-d1fd1876708b CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f717346-efdd-44cb-8397-8a7736092cd3 CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d84734-ac24-4923-bfde-ab8bfb41d5aa CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae79fc89-0f0e-421b-8bc1-26e7abe46b68 CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97736b03-f60f-4d6f-83f6-c3f8f4ce2417 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7645628-f4b7-4fa5-bc5f-40c02faa4b71 CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd56ee5a-ff26-41d2-a6a9-e2d5ae54713f CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9301d6b8-490c-48e2-8cf7-6080fe72b21f CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75dd62d7-8248-451b-a8df-a47f9e2ad5a5 CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab41a73d-3339-48cd-b59c-85f0042a1af9 CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e01960-ae7e-4ea0-bc6e-b386407566d3 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c63b5a64-c38f-4809-83fe-c243d522f567 CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59ca050-0c72-411a-bdf1-66f345a81b36 CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f885282-6e68-4b8c-9a66-0de6df16e1f3 CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0546f7-dd2d-49db-a9b5-411ddc027948 CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f49f5a22-dbc3-4ce4-aef7-23f3f19eff9a CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f7bf3a-ebbd-49a6-9aae-a262555ea824 CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c28ffbd-74f9-4c18-88b6-602621f0b658 CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f91c7c8-3202-453b-a1f3-e67d8fb8def5 CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3fca2c2-c0f6-44d9-870a-17e721a8c49e CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15be29c2-7722-4221-9e30-9d8c2ef1fc5e CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dde3f391-beaf-492c-83f1-bb32bdcdfe36 CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af3ff20-f180-4240-92ec-b929bcf5c1a8 CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b708ed3-04de-495c-9550-00d686f86f5f CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d86860-e571-4cc0-9af2-73904aa3cd6e CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49162264-9e34-481b-8947-919ee7ddb14d CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc54b82a-7622-4079-82a3-de6b3581a72d CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ac7bb4b-0821-4fb6-b1d9-64a9b45fbc41 CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b098af-e28a-4532-931d-0ad35f27d5b6 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03779e41-141c-4f90-909e-5d3a11a0d21e CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038dc506-de66-44a9-b981-f294fe71ef33 CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d7a3354-f967-4fb4-8851-c60f1d54fc69 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ffdab3-cdef-4060-a6a4-92b54a43ee04 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53ce9d05-8217-4ae0-9271-e91a7732240b CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575a4901-01f1-4205-b8d5-cce04e26f93e CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8d871b8-fe53-404c-ac78-d3aa87c88e22 CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c31712e-375c-4912-a35f-e498c543ec7f CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 031d8793-af55-4f78-9c6f-05f024f945da CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61949f28-6681-41d8-8d01-e4d45a49e43f CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e87e2492-4d00-4956-9e2e-c9f46d20a4c1 CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf901eb3-df0f-4c7e-8842-e93943a9c321 CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c566db94-58c1-4e24-91a2-cf7fe7bd90a8 CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000c755f-5464-43d9-8be6-d02ffa873042 CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b7b3e0a-487b-4181-b2d3-16b3a996db00 CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7736722-cf89-4e77-8d8b-0a590e913c9b CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07162eea-2a25-40e1-8e78-9fe7dc76de8f CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef00eca4-60b9-4b8e-b210-b3b588259e7f CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33b81a40-4b52-4a5d-b9e8-80cddd395130 CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c47f2b-e24c-4298-a684-a4857bc5e376 CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87f54207-bc10-4c0c-b21e-b64fe2455f61 CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ba02da-45f6-4e09-8f53-13774dd4b03b CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e52a98f-a4f5-425b-94f2-743dde94fd0f CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898e17ac-3a3f-4878-9183-80971ddc695a CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c295fcd-37a7-4329-89b2-3ed48a11046e CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050a9d7a-76d8-4de5-9365-83113d9c18de CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3e1eee8-d53f-44b1-b758-75f431803d7e CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288e919a-97f9-4a1f-92a3-65d7c55fea92 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b68ce7d7-dec9-4158-83e5-816c25704bf1 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dee1057-310d-46d5-a775-6436ddf0006f CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a69f5edb-db09-456f-879d-6478e8bfc581 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312fbdde-c202-437c-8115-60c45f8660b9 CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b07f0e1b-5a03-441c-82c5-17a7fffbe754 CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad80951-6ca0-460e-93af-f98be90c12b4 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3a72958-ce72-49d3-a586-6a49085467bb CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a36705-2c16-4483-bf15-a651cc84e819 CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93bd7c28-e58c-429f-81bf-4ca8c41c66c9 CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2075f6-0001-4b15-b23e-6d43e877a439 CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe455a43-6e10-4337-89a4-9f32700a0814 CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08fa760c-aac8-4a2e-a841-11191351a6c6 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4acc9cc-a9f1-4137-9ce5-0be1cb2c5d68 CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb42db55-ef96-4b63-ab53-7d35b5689757 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0604a1e8-e91f-4598-8205-c4a2d4fbb113 CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846a4ba1-176a-4027-9041-c435d0bb652a CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eae7370-0223-47b1-91e9-bbc37a0bc32d CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e909b376-5ef4-4a84-9e15-c8e6efa2ba4f CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 982e3cf3-8316-4bcf-88b2-32904234a2a8 CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb54d097-9687-4620-b9a9-5acedfae664b CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9009ddf6-2cb6-472e-bd58-4bc798578b1a CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef42bb3d-b78a-4259-8e3e-d467fe01980f CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 028da5bc-281a-4b64-a57a-6b230da8f16d CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca8b903-1a6f-4696-a3e2-6607049f4604 CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38a6006d-859a-4427-90d3-56536d8cceaf CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612ec79b-be7a-4bfb-9ad1-1915f57af2ed CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbc3c1c9-284a-44ec-8438-97fe2baf5546 CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f0e411-10f4-459c-addd-6a907efbde1d CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47905eca-36db-4d0b-b705-59e17653e1c1 CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f4eea8-cd31-4a80-b8a0-7fed7d56ee82 CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c2203a-135e-43ee-9d33-134fb72e5aa2 CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45caa62c-32d0-467f-b0a8-41d40b911b17 CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e55d606-281d-45bb-a0d0-5f106807f85a CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d9816e-92bb-429b-b722-776744ea93a9 CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39435436-c036-4703-96a7-9695c94f3077 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93604f03-202f-4183-a63c-2909bcdc4a0a CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73053420-e31e-4dcb-a52e-2bba1a0c5838 CAID:CA355945475 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351ab895-bfd0-4c60-9168-5d0e53d8bc5a CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c455c847-2632-44dd-ab26-efd9dd9898a8 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800814d9-c05d-4ee7-84c7-1f8bf5124325 CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c8c779a-a3f2-4285-ad78-7d0c39b50e8e CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbf85df-43eb-4a8e-bec2-ca6004350243 CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 192b5951-5cfe-4bf7-b920-6603bce1cc3f CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7448a63-c903-4061-bc8b-d420179da995 CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e955b963-bba4-4995-b1c6-866c4a40acef CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724f6c13-6dff-475a-ba3e-7a1a1db0f3f8 CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65102dd2-87a0-4591-9856-a91077a0ab09 CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d8b593-02a9-4d9d-84f2-2fe4c7d3cba2 CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeba8038-985b-4fa0-9985-210b3fb8e69c CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ea4636-49e3-496e-95ee-d978a469838c CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb78dafe-a6ee-4016-87a9-31b246d6fe78 CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866f31d9-6a65-4f9a-9778-44194d1954f5 CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen baa58431-7e0b-4245-be99-198f9a98716e CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab7e4ca-0124-4db1-992f-362a2ace6c1b CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2a287ac-f569-4186-a5de-96bb959ecb38 CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7ac90c-82c0-446d-a0b0-4740b9308de1 CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29fec273-5b38-4eac-8304-7c30d8d6cf07 CLINVAR:580378 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25dc651-ed34-4614-b6eb-20d514329efe CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ff473a1-ed80-46ad-818e-8149f529a2da CLINVAR:632970 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb4d7b0-9098-4ae4-a859-338cd59539c7 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27b9cdbf-53e5-4ae6-b6a3-41fbca2c88c9 CLINVAR:633393 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6594efe-db27-43b6-80ed-90e3b6816729 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ab1554c-715e-4d08-a219-ede3ba983d58 CLINVAR:928882 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003f56a2-dcfe-49bc-a225-cac7f6446e52 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ae885e8-1dbc-44ec-a937-b01125fb49eb CLINVAR:379208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4911550a-cb02-418c-a582-6b179ee0eaf0 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01289cd7-3f1b-42e7-987e-1a86cf2b95b9 CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89189aa-1e98-4288-aa58-6e79ce2a1dee CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 279b1d8b-f175-4b4a-99c1-e12adad28669 CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f94911d-1fcf-4f05-b927-99197369ed27 CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80f9a3a9-0451-4db5-bc4c-08f36afcd418 CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f044e76-e16b-486a-acb9-24e9341c2861 CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71999290-8715-4875-9f14-7d92590ceb95 CLINVAR:14221 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d980c5d-c172-4792-a09f-434f2291b5f8 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9384b07-2739-45db-922f-27b62098a96b CLINVAR:660541 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a89c42-a037-40f2-9e0f-a9b02eb00ef6 CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d4fc479-a591-4631-8563-7e91a13a3258 CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253b13fb-4055-4324-a389-3388244f75f2 CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42bb94e9-820d-405b-80de-7229d6a63066 CLINVAR:487451 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6362e9b7-8cfe-4ac7-a916-e7fb33cd4c81 CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c2ed033-53a4-4d3c-9630-177ecd6d7ab2 CLINVAR:1072425 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b4eaf2-4dfc-4564-9761-628d26a46a6a CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8253227-b31e-4a5b-8ae8-60067401321f CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55947676-8f91-4068-be08-06739a0001a6 CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bea60b5-7a51-451b-966d-9208e8d067cc CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33dfb09-3d81-4006-ad9a-0e8d95e77c79 CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c62796-c82a-40f7-b811-c7940ea95be2 CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c58b8d-12fd-46e7-8aad-f3e707b57081 CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2be7b366-52f0-461f-84ee-7dde244a6a40 CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518ec2f3-58f8-4494-8022-fd4107df3a0e CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0656c59c-1b61-485c-a57a-f51bd7f396ab CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3f15b6-314e-4b97-be6e-e1ab1a47217c CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9125d65-d2d2-4d0a-81b2-d56a84ae5c90 CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0264c99c-f15b-4665-a11a-9e325ddba960 CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5b9756c-26f4-4970-bef3-344389c5661e CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77220f6c-bdcd-4603-befe-d2323f87d946 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c56c77e-5aa6-4b5d-a6f2-ece2d0c3bd89 CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6761f669-5208-448a-9d53-080e65545a99 CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5fab500-fbe0-4ac6-af95-fd78318e16ca CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97722900-1ff0-4019-957a-8032df292d54 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0bfca3d-68b1-458a-bd53-285560f0687b CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7f3a10-fc83-4706-8086-f19e0abaddb3 CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27f7a1b2-ee11-4a72-9692-aea720e4b739 CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ece71db-53e2-42e2-809b-bc6f5ab51788 CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9823e1c2-f824-431c-83cd-a59ebe535836 CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903c3a6f-1c93-45fb-9d15-8313b2146704 CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7936a996-b90e-44ac-8725-1f9b9ca6b028 CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7654bb8-e121-44d9-9d7e-0b0644745ed7 CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 320d39bd-cdd5-4bc6-ac2d-2fa5d3300563 CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8e1148-dd35-4b8d-8743-25707bbf92e9 CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 006fff47-277c-4af9-83c3-2ba1b0e42546 CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6a040c-ec60-4a20-84d1-297464e0b5fd CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 773b6437-0adc-4572-b961-a38cab5e1827 CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c194b70f-07e1-490f-bd91-2aeb2c0836a7 CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c698f13-b0df-4058-a09d-4869ea754398 CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd600f2-34bf-48dd-aa7f-2aea88bfcaeb CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c65db36e-57f6-43c5-a730-68f128d52085 CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473c075e-e9cf-4340-a827-09136a3570ec CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0019d65c-2799-474d-b382-30b54fb47478 CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7556ba2-360e-4d02-ac29-46c8b485b289 CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26678f5a-2fad-43cc-989e-b46d5b721d47 CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0ece4b-c611-4763-a497-3c9bc36a2d18 CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02b03961-64eb-47c3-b43b-1072bdf100ea CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c14164-76b6-40b5-98ab-4c5d964dbf01 CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1b02e45-8632-49b3-bd28-f217ca11578d CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4040efb7-6ae6-49cb-8025-0993d724e8e0 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b5662fc-acb5-4110-b0ed-a651e7f13f0d CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c295dfd-fbb5-4fea-9b9d-4af95a57289a CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 114ab72e-d738-457f-928c-724df1285e23 CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d781afa-ebde-4348-8fb7-a8ab4fae8cbf CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cf58939-86ea-4a81-88ac-4a733d423a1d CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55157a32-1802-477c-8bea-7f58c511a5a8 CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d48524d9-de5e-4635-b686-396b2cef1c47 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bf0b4a-07e1-4b16-ace1-8b1a214636d8 CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb007176-c093-4c36-8d51-468d74111ace CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01bed847-4dc6-4f14-9794-60c6e9551400 CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d432eabf-7d62-4dbe-b502-48300342063b CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d35aa05-dd7c-40d7-883c-c415da9d695a CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a25935f0-42b0-4530-a00b-1a34979400ab CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5712933d-d264-457c-b034-510b09388d2d CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e76332b0-1b79-4e7e-b2be-bc0ba971ae2b CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645f051f-ef63-488a-a28c-8f30b7826d7a CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8620b4d4-59db-46b9-a6b1-f385fac11a85 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66b6cc5-c11e-48b8-b49f-af34f5545782 CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dfd0d70-a6a1-4374-8ef6-0ba29f6fcd58 CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2a7567-8b8c-43d9-9716-c40e1d129b1b CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b09070a-debd-4aeb-bd6a-eec455ade3bd CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1771ef37-54d2-42a1-8add-101dd7e249b7 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1566e99-e188-4928-91d4-be1bdabb05bf CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674f6eed-a287-4109-b8f8-12af4d91d8c3 CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3acfc1c9-a10d-4e41-b0ad-12c62ae985f0 CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80b24e7-ab68-4876-afa8-f554aab1d5cc CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8619e1f-1a10-402a-ace6-07d276a56938 CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddfe5691-6e45-4777-a75e-5f2f60e217b3 CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8936f9e3-0feb-4cbe-9d9e-2ce8c2b47bb1 CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d81b25-97ce-4c65-b805-74ff40c3ec6d CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2516cee-70f4-48d3-9374-893d33f8b26f CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e5b289-d5fc-49ed-8564-0ae45d70fbe5 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aeec2241-a070-45a8-a6a5-333218043429 CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6977a6-d588-495f-834d-04331232ce8d CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a508c75-dc02-4ac3-a4b4-35bf7814d065 CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0613e2ad-d5bb-4865-9211-e175481ac3b9 CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7938e414-2486-4732-80ff-bb3c690dd684 CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9382ff79-d4c0-4a47-b5b4-5e09a0433bbe CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a85750f9-75a9-4191-b88c-b1038d96c1e2 CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e5d9b5-d7dc-4962-bf97-933fe4c3b314 CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cba53601-27da-4693-b791-d873f436da08 CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73636cd0-b272-4267-a5a2-dc26e274a981 CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77f1179b-f307-4100-a2e8-d14034abf77f CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cbbf87-5963-4645-a05c-6ddaadf2cf2f CAID:CA341276980 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61d234cd-cff3-4c53-8819-0fb1f75f13cc CAID:CA341276980 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f66e8b-613d-4334-95bf-4aa034f0ab6a CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 716cb49e-e1ca-4a3d-b141-266637fa00ec CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fffdd6-823b-4b8f-b8ca-756fb373089b CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cdb657a-bebf-4b72-9702-5e90f3f1b5c0 CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874b19bc-17cc-416a-9e5c-e286fdc0f1d2 CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acc7f74c-de2d-4eba-89fc-739551081a1a CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b8d289-0d1c-4cbd-a4af-a909f616a29c CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 422d6fa1-0862-4285-9a6a-66001842d8fb CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438686ed-e06c-4751-b891-2ca36d795294 CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c0349a7-69bd-4534-9125-60e12fdd2ec5 CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f606484e-208d-4393-857d-0e5e9762d143 CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ed0ec03-cf83-44a2-871f-046ca74f80c3 CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac8ba99-b914-40be-8be0-cb9afb91bc6f CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40d07da2-2839-49ac-b460-fc6aedb0fa2b CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a441959-1298-463f-a055-8e25cf5eadf9 CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28485516-0a43-4727-91c2-770ebfe0b2e6 CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120a6ba2-a14c-4387-9f29-87571bf00a20 CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8f956eb-86f4-4f56-983d-fe868e73320a CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9896b5d4-2887-449f-9c63-22c7a852bae1 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e3bb3b4-c4ce-46f0-b168-f92bea06fe87 CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61a591b-3dc3-48a8-add9-692ce5fbfc45 CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbe85d2c-0770-454b-b87d-ae642d3356c0 CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99c5334-1840-486c-a5c9-f805f225a1ba CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b661d0b-dbf1-4e29-979a-89b0e9fbc971 CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1562226e-6389-42fd-8020-e0324d203239 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e0697c3-758c-428e-a093-e0f270051912 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f383de-4b05-4e5e-ba14-c097b284b123 CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fc144aa-04e8-4f61-b79e-cf60f5f30f0b CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c75e88-ce1c-4aaf-a519-eb82af4ec8c8 CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 577a9ac9-a1e5-4ee6-8a3f-decd254a452a CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd646798-7f45-470d-ad83-1c96a830d125 CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82fb43eb-ba3e-4087-8172-2423f8c91f5c CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40047088-27fc-47aa-9d54-f0cf45816a60 CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2451fac-9208-40f7-b2a7-21f1f18eef2c CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6542ce0-270e-4eec-a5ba-c953be01a560 CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b243dab6-643b-44b3-8ac3-a79ef6b2ddd0 CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee733eb3-b4c1-470f-9992-36c770fefebc CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88d54434-0745-4a25-9d2c-f607dfc0361c CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53afb59c-1d9e-42bd-838d-b1e518e831ae CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42d64781-22df-489e-98de-5a88e79f8147 CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d225f53b-572e-42b9-b164-f493fad00a19 CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51ef0f47-4627-4086-aba1-0c5eff096f11 CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee7dd86-c81f-4723-8213-bad0f2a6703d CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f49304-d768-4e0e-aa1f-523d99a56be3 CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa555cdc-0929-4929-9ba7-66189f90ff1b CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 308d25aa-a3d4-4ed9-8392-4ba5b3048718 CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a27c0ad-6c33-4dbb-b326-8085c83805aa CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbf0872e-9c54-4314-a41b-547037a7cc6e CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92bdfcfa-cbbb-4422-9fa9-462bf0cbf2f5 CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c15e713-ac6f-4813-b227-d57d0f5a4b31 CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db75e47a-440a-41c9-a208-48cf59edf25e CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7424f72a-d5ca-4179-9437-8d0510796a2a CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4632fd1f-5b6f-4981-aa9d-dbd65063f3d3 CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b48846e4-118e-4c4e-8fca-d38984952697 CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ff38ef-5f44-409b-b4fd-6278302909e4 CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb9c5dff-48e3-435d-b250-52a8f54171dc CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0074fd1e-c6dc-433c-a7c1-d93f912b8ded CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05177461-a60b-45d2-bebb-7736b7334988 CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd72560-72be-428f-bc9f-6daca2a0db33 CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f649bdf4-8b24-47c5-bb9f-e768f1eaa415 CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec6cdb7-510e-47d5-858d-65dc259b714e CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 236154e4-0d9d-4538-b714-b8bdbef6b30f CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbe35ff-eb1c-4e8f-8638-7a7817a471aa CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed575698-986f-473a-b0f6-001f96281b69 CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4d167c-00e3-4784-a96c-454b2246edf6 CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d95f316f-2e10-42a9-b948-9af14fb709e9 CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2c8d69-8c4f-4792-9b53-85b30160eed8 CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2270eeb-9656-457b-b44d-645a011e1fbb CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56baeb04-e966-4728-a275-bc28df9f2db9 CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6500e704-55ed-4327-9ded-11df9c442e2d CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6b713f-9d37-4624-9a2c-a1b59ed51afa CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9b8d0c0-e891-440d-9b2d-43872c2b1c5e CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2c523b-6deb-4e24-ba7d-fff7e076a132 CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ef76956-f05b-40d8-9054-ff9f0c579b1d CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550b5636-e893-4894-b679-443c80774e16 CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5c0edfd-11b7-4372-869b-d7a0c5f7de5c CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2ef25b-0692-437f-bbdf-f2546d7fdcca CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a095ebaa-b8e4-47ac-8cc5-9c2c8248c225 CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8fd055d-f0b4-4458-83cf-94991242bdc1 CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9e9d0ec-9ebe-4fff-8086-a3e6a3f89e91 CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be539fb-a1e6-499a-8596-f34e564a2ce3 CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e922c9-d867-4315-89da-bb9d334213ac CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8a1676-c22f-4028-ba6f-b595c1cb05db CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85ea77fe-e86a-4192-9974-d4cb8c0dc77d CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3168f12-8552-4067-a71f-cda1a66564cf CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79ac131a-cdfd-4a34-b66c-fe9d3e98c2b9 CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9801d5-6f1c-4624-9e5c-8acce5ba13da CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8acc1311-d932-48d4-a537-1e95df30ef32 CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95161960-3753-4065-9372-00726f25542a CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8dca126-0fc6-49c2-a7c5-444a2912ce80 CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d96c1e-f65d-444d-96fa-cd557ce994b5 CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd7bb62b-23a9-42cb-9e08-331ef3b67a37 CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce110f61-1de0-4384-a7cb-a59d9276bc51 CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8dc574e-70d0-48f0-9d42-d28dfe8ca499 CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62551b4-1f7b-4b2a-a8e3-06287d6555dd CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4541c595-2ff7-4c00-98f1-d43d6b1cb463 CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2764a6-e4ba-481c-9266-aa1545d21183 CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15e58262-cec7-4456-899d-97a709ebbeb1 CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f186a389-bcbf-4011-9653-5aa0c7d9081e CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a182f7b-8f16-48c0-b7e2-dc274e1dbb8f CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafae2ad-4f63-47e4-b7b4-d6facf4b3374 CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3eaf4e52-ef5b-4ff6-ba78-f5473a8d90d3 CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959067d0-3c5f-4cc9-8226-4c60df10233a CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 439910cd-4c3d-48d0-a54c-53523f20db31 CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67a0708-0ed8-46e2-a10f-5437eede3b4e CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1d020fd-18fe-4793-9804-86a83b95512d CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928bb9ea-ab15-4e4a-bd65-b67524bdc453 CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4025dcbe-e008-4379-88d0-095d6c03c04b CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a915123c-f21e-46ac-8de8-a482d8a6f661 CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e71ed24c-b8ef-4ce8-84c6-f564e7afe069 CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e0eeb2-53ab-4a29-a254-5f5275a05344 CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1195e5ad-1dad-4c8b-934a-e699b55f9438 CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d9901f-0a1d-4a33-b476-1482768aa56b CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9e8f4fa-02f0-4b46-a302-cfb264c90219 CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf635d4-87b7-4a3f-b245-ec7e8abf70e3 CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0802a14e-7cbd-487b-8cc7-5176ac2219c6 CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e550deb8-84a1-45a8-8ac6-1e83f1918123 CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6c13b27-10c4-409e-9e0c-b16d1933678d CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a2fed5-f68c-478d-90c4-a891d19b1f09 CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e56da574-1488-4330-9088-d89055c5acf0 CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7da09e2-0c3c-4b47-ba4f-a03c63747677 CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 763e0fc8-ec4c-457e-a3b7-f49abc2d776f CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c88bde-d5e6-4b8e-92fe-2ccb59651e66 CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1589e19-d733-4e9b-baed-c5892155e3dd CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc405cc-6d77-4019-bf76-ddc9c8fd8aeb CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7de6d4ae-aa55-4dcf-b8c2-81bc2009cd9b CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547b5e9e-3642-4ad2-b8e8-445899f7d04b CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba6b0f03-a28e-4031-b597-94511c2afc47 CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d26493e-4a93-4552-b467-12dd69828a61 CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a50abbb5-754e-43cb-ad69-c0a12bcbb055 CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533d5b7b-0c8e-4b02-8135-4bc8ea62bfb4 CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c7e58c4-061b-4553-81f1-4dd7198cfd74 CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b196ea-c7cc-4fd8-883b-3830d863c9a0 CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ba9d66b-8a38-487c-9c3d-e3af6870e184 CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8353dd80-383e-4dce-9550-5e657e6c6ccc CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95400836-1b0b-494d-8d46-709ce15ad8f0 CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db24a3e-961e-4db7-9e8d-c6fce18c042b CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28f506da-2d9f-41b0-8f70-d2dd3e3df711 CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c9f209-b13a-4064-8dbf-ea21cb60866c CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9abf119-6b68-482d-9ba4-3ff71645322e CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c48ef75-6d23-4373-acbb-e151d4ad4a05 CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba6dd4ae-53ba-4474-8635-2e6200012f7f CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed98197c-8897-48e8-9d56-9acd57c54f7b CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90cebad7-da59-49b7-a5e7-d869d720a54a CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2639a91-ad26-4cbe-9a90-4ac735b55587 CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 050c4c0b-c142-4b58-8577-59b76142c951 CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf3e332-52f0-4b42-b097-b854645504bb CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d86e22d-a27e-4596-9311-15223ac9e044 CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc99530-9de4-4add-8df4-8e43f25eb961 CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72fcae0f-10f5-4051-b3e8-3301f5243aec CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf773234-0aa0-4c22-a6a2-1a530951619d CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c580e3ce-9142-4eee-b1cf-ce5c4a0b21ca CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef35f6b8-cf63-4e49-85d2-494b52752284 CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a5f0f09-03a9-45ce-9a8a-51f403b4c46d CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ffa071-393c-451b-917a-5dfccc1c8e7a CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57e69753-43bf-43df-ad6a-b80d4e674ffb CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b1521a-6437-4735-8c9d-8ef0f0322541 CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe4e6673-cb12-460f-8f21-040b27862fd1 CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0c4787-7cf7-45ac-92b9-ac3e051600ff CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3fb6445-3a54-4414-aa80-6b078ef45f24 CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d80b10-5a7d-4196-b948-6631fb8bcd38 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69427a19-d1df-49d8-9853-e96c0e0f0a4f CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3ceed8-9540-4cb0-819b-742ea0f3a9f4 CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94b9d0c8-e518-4254-b5f6-a1c4d73acfad CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091c47f9-24ca-4f55-bb29-c7155354b464 CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 132f9b12-609e-42e0-a8fd-5723d016e7ae CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0197a417-d718-4186-be39-47f3f4f52fac CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b155711a-b46d-4bc9-a9f8-2bcd1dce3799 CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914a6af1-8ccc-4b61-b1fc-b3a6d2909720 CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8198186-b967-4424-b542-cc8846b6c982 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300051ce-2f0a-4280-9093-5de7af5e5585 CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bc710f9-0821-4cf2-9790-35aace957d0a CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ebc5f17-c83f-43fd-949d-3402ee47a690 CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98b3d522-cade-4e82-9711-5d956e86e93b CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f8cad0-b881-4f68-a1af-168c8777c313 CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed91bd5a-3806-484a-99b4-3ef3b37c8089 CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b187850-4c8a-4f9a-a3b4-c45ce70111fd CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5bc88d7-7ea3-42d6-9108-d4c6ebd71a39 CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adb30a8-74c3-49cd-ba11-6d71251bcc63 CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fcbe19c-acff-4432-a22a-5b3d80bde8de CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5255cb6-03bf-4bc0-b352-2942a37f1b42 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 040f176b-7484-464c-9a89-26f39abe9176 CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4caa55ac-19f8-48ed-8bac-77e69be96cb7 CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c2cbaea-a471-4796-9b7c-e420854281b7 CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413e9b55-2d42-4072-8673-b6be1e4cafce CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e2ee895-dc04-4989-9aba-f353d07f2b3a CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf99b670-d9ff-4072-9512-a330aa202333 CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbe88599-cb1f-4338-8419-56ee25808a61 CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9fb054-23af-485e-a6d0-5d4a690bf5f7 CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef8d8050-8b86-4d02-90a9-b3efc5960dff CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cb4374-43ae-4b8c-a532-9a7f1414cb54 CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1484c4e0-cd7a-43d4-890a-710dbbf2ccd3 CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd9a62b-708b-4fbb-bb43-aa19f2cc081d CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d237ef1f-182c-4317-b781-e44e0312c656 CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e511a4b-e05d-4358-a90d-ce7a64dfac19 CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fddf2afd-df23-4c93-a5f7-20d8a606c42f CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acbba9c4-50b1-466f-8d6f-71fb38f2c97b CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c62f88c9-8ed0-4916-a8a9-515859966350 CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f32066b-c654-48e1-a84c-5aa8ed1ef49f CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea7e22bf-baf7-46d8-ba6b-3108b731b1ae CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7679ee0-c6ef-4fbb-8475-b202e1ad3365 CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9716cb97-6b5c-4812-b0e7-e581a6236e71 CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c8ffd2-ab1b-442b-8792-ab917270c46e CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a88def47-58fc-4a91-9b87-98946f83a74d CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce4b91f-cdd4-4ad7-b07d-8fd102517e45 CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 270efe77-306d-4733-8851-24acf4071ef6 CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf51f7c8-7a4c-4c00-9861-0b441e596331 CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 858b82bd-aadc-47c4-a2a5-ac18ed8b050d CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd05a55-4324-48c1-acf3-6c2ef8db8380 CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c99f9fea-5066-4919-b515-a58acc6c6c1b CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d346775-9c4d-4ed0-9c2f-b043d567f752 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62b3a326-b200-4684-bccf-d3c790f1d404 CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d0b1d8-12c9-4168-ad09-c6dcbf7b64c6 CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28f31734-f008-48f9-8bfa-11826a2d2de9 CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38769a1-2463-4ed1-b382-6ce174d475c7 CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb0bf362-7ff5-4225-8b38-b9548a89366e CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0128c520-7e39-4818-9828-c8d92b79b736 CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a79f12cd-e7ba-4b61-94af-d4153d2b277c CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6024b3f0-2686-4173-b21d-ad5d53ebb070 CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cc2c333-66a5-4b96-9be3-2d52522ebc62 CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5254f7ea-cc65-43f5-a6c6-1adeeec592d3 CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d1e022f-1d7e-4b04-bc48-428f65e13556 CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44f827b-1793-4f00-9ca8-79451a4892d0 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c7da3ea-18d0-4e13-917e-e8875d1be3d1 CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0876f3f-c785-423e-8b1e-625c3e245d18 CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9350b132-2831-4450-96f6-1877eb93c52d CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b313e378-bc73-43c8-be1d-31b7c3a2fb4f CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b57169a-7b8c-481e-8260-f18de393c67c CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9eb83e8-78a3-4924-955f-5b75a37208a4 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9161d0b1-8b39-49c9-ab32-8c227a76dc61 CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fda35d3-fe31-4778-ac23-77093c6ee137 CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d98cac10-8e1b-4bcc-964d-0706487cc4a1 CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5efdc0-b598-48be-bac0-d61616d5c847 CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 216e3a90-acb1-4155-81fb-909dc757e862 CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1583bf-cd36-428c-9376-dd29aa006a7a CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7309066d-60ff-4a10-abbd-3ba759ecce6c CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b2580a-ec9d-4cfe-8a91-e681f610e31b CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545f918d-192b-485e-8e41-069597451831 CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16a12a9-05d8-423c-89d3-c1b5c9efaba9 CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 088aae24-53dd-415d-8d63-c0a0025859b0 CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225dfaf0-de5c-4f95-b6bd-fd305f838f7d CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ee3b4f6-9a05-4a6a-baad-1099f894722e CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba44cfd2-a297-40f8-a256-94b8df3c3937 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a7de29f-0d40-4146-8f73-8dc7af2584d1 CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b2358e-cf00-4a0d-af3c-5cb50c27e098 CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f08ce17-f112-4c14-a415-4020fde337fa CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d1e06a-cbea-4ede-a502-8787cd77366c CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0e9cdb4-c44e-4cdc-ad73-07868c50dae7 CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f2f386-42f6-439c-9db9-bd0126d6bbbd CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 451812ce-66bb-4290-9927-51dce277207d CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89f1a5ee-36e9-4238-a342-7bbbbeccdf37 CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 419c2f91-25fd-47f9-addd-2060fbc18d7d CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d74bc56-2d08-4d7d-8524-9a321115ede1 CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9f8cd8d-9143-4d37-8ad2-88d53f90a1d9 CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b146c213-9ac9-463f-a475-ff1750932cf0 CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3110a507-ddd3-4f14-97f5-c97851b4971e CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03afb10a-e9c0-43a0-aaff-0281af4a3ed0 CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8cdf5fe-444d-4d1c-85ae-29009425c7c4 CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa9d47c-fad3-43f5-928f-01bfb98297ea CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 026ddef6-8cc7-49e7-92a9-fd697687a124 CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5138b8ca-a400-45f1-b3f5-4aac6c0de249 CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b54a81d-b12f-4a50-8ebf-0658630d3a8d CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09718d11-a327-4580-97c1-11f5a77e1507 CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5476a3-5f42-47a6-a7dd-0af824d25e66 CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c86648-c9fa-422a-92bd-79426358584e CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40a5e480-f037-4524-8998-f02c8d9bcb27 CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0a9ec7-7b89-46da-9d23-086cc72f223e CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e7d6f94-1a81-4fbd-a959-8b35efe9d47c CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e524a5-79cc-4c5b-8211-dc42008958eb CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e344573c-1206-44d2-9a2a-c67789729828 CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c823be19-db0c-4366-8d86-a52549490634 CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27d7882b-47e0-443c-b216-1cc7c5136ed4 CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562e7f7e-c62d-4e31-bb4f-ae0ccac82901 CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9388135-ba13-4515-b03d-9efdbc143d9a CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90cd39a-8c97-44c2-990f-9d89d06ab44e CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9be2bdc-54f3-4b75-bedf-b18bd9b30923 CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7910b52d-64e0-4895-bb0d-267f493a9b1c CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f4e4a5f-fdb0-4acc-af3f-9d6112c06d42 CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7adf024-b124-46ca-a4bf-6da30728326e CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c23c66b-dbc1-4868-8ab9-d67c25ad6f8d CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656d1e4a-c235-4505-aa59-0f49a12f4c02 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 809d92f7-ba92-4d1e-8c69-f44f265c6542 CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247d015d-68fe-406d-a91f-b1c46f33435a CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7292158d-d6cf-440d-90e2-d620e9ca1488 CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfaf14d-cf02-418c-9e95-7c4c473b96eb CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b365101-5a52-464a-9477-d746f0b3e558 CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f40eb7-54cf-45f4-a641-f5e3d3c29a51 CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e04c34df-b05f-4e1a-8150-decb336873b4 CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3c3572-d5aa-446b-9b35-d5bcd79339be CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 651cb2c0-743b-421e-85fa-28b4512e1346 CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadbf2c4-f922-4a28-a289-3d594553246e CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 309b87d6-3a38-4fa2-b412-84a19aa6995a CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7294b18b-fa0c-4d1c-bfcd-4df3e45d9cfe CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75bea52-0d6f-4d6f-95f5-03e30fc23010 CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043ce51d-ae53-4295-9917-9434c1decd2b CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 436bd39a-bada-4898-9514-046a6d362a42 CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808384c1-55e5-4d2c-8cf6-31bbd2c647a5 CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c830dd3-b44e-43fe-a1fd-f55b62e09106 CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06da9c9-fb96-4715-ac07-bcb4b4578126 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da87a32d-369d-4710-989a-84616db40bd3 CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e50bbb-3fc2-4e4b-92dd-d2c1fbe9b8e7 CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c1bbe26-000e-416f-a214-a84f5623d034 CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eddbba1-0584-4211-ad99-00f616377736 CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10be050d-4475-4ec7-80e4-54aba4ff17a6 CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e28c601-016e-442d-80c5-f066e1c0812a CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4acb975a-ea34-4079-a65e-0750b784f6aa CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1869c3e2-6fd0-4bca-96d4-6d6427e96b28 CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ca5f30e-8f2a-4430-83c7-d6416f3f44de CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabd6242-5760-4b0b-86d2-02e86ba63e90 CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3302c5a-28b5-428a-a20d-fa261cc853cb CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4867d9-f52d-41f6-b619-2dff516bba59 CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f682a55-7c78-49bc-a933-013837eaf95b CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0a06c4-ad23-4baf-9c04-9ec8b27ebb33 CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen caf3ecd0-ad05-4125-9116-494e90fb83ae CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e124a41-9c31-4672-bfce-33e8b3de0307 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e32e7ad-c25a-41e4-bbbb-2d97be16a056 CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31174fce-cfba-4674-98b9-0a403904dae3 CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0df779c7-24e2-4842-9900-076bb5279d81 CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f488c0d-06bd-4abb-9f2e-ec336146de3e CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1ebedae-1582-40f2-ad7c-edb585f82053 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e071fe63-0488-4b56-b6f8-d0b9b0b9a4aa CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5304c114-b5dd-4e81-9386-ac7067707b16 CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f89ec80-8b2c-4e84-961d-e68b62d2532d CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01217292-99b7-4a94-bf30-7516e121aa16 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50a5421-4c24-4e80-aace-2975706f7bf9 CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 959d32bb-e24b-4dde-b8d2-92bde1dbeeee CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d97594-8e19-48a6-84e4-86e35c24c0be CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8903f6b3-46f0-4373-ba95-962c3238a8d6 CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb716b1a-23ee-42e9-8a08-8387368f3eba CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18ecbb08-c308-4968-b3d0-7dfdbfe00c76 CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3988119-c95e-48d3-b9bf-80c8dc757ce1 CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0158222b-4885-4027-94c2-700f6bea9599 CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb6bad9-cb5a-4a68-92c0-c08ba994edba CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0cd1cb2-b39c-483a-9943-1bf0b0c450e0 CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8ecaf4-0233-4f5c-8373-ffa1494debf7 CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 162e8d08-0c3d-4420-8932-fc470119f1f6 CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eefe863-ec5c-4087-a37e-32f9a440908d CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba3a0cd3-d026-4d54-80fa-f5010ed29271 CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5a4871-6c6c-404a-8fce-94f3a153abdd CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab0b2938-296d-4ea8-b087-a95aa25ddc5d CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ff1c9d-fcfc-4095-91e5-a0f86d022ceb CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 072faaef-8850-4fbf-a0fe-fc31ec81466a CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e26dd6-96a6-4aa7-ab5f-a48f6f6f2d18 CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91bfc118-0007-4c2d-b533-131aa4660474 CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85623a82-fe89-4e70-a28e-d28898bb526a CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac48fbb3-4604-4c26-84e3-d6cedd5f4388 CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30fc6f5-3f99-4a95-96ea-ed1c2406cc88 CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1156cb8c-3bbb-4e38-954a-1910daedd833 CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc88189-8757-4441-b324-faa086593cb4 CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1039d2df-7417-4ddd-a72a-b38adb9a3529 CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91258a58-6539-4144-b482-10b86c6685cd CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cbfa2ab-8ccf-4b87-93ca-28c35ca96e24 CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68df7a79-d56e-487e-afd1-06a435fd040e CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa724e91-bcaf-4eb5-8471-46b28ce40be4 CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f44dfe9-bb66-498c-b1ee-7fe2c09f50ca CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eedef822-5bbf-42b0-94d6-7fa2e66f068f CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f50ecf-f2ee-41ae-a038-5f4513f5b086 CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edcf81ff-03be-47fa-a563-f0a07cffc35d CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566b6c0d-81a1-46c6-b967-a61a7d419165 CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ba224e-d616-4fdc-8791-4c50646953b3 CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b447146-847c-49d8-ae72-16c1a10178d8 CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d66bcb-d801-42b7-9816-ec4a943ff023 CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd26610-85ea-483d-b7bc-05c4800b7671 CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 615df1e8-8ffb-43c3-915b-86dc689d00d2 CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7014b03-3ee5-43e3-a86b-72454160730d CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 044cd03d-9219-47c6-9f7c-75681d817251 CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a67dec-ec16-4668-8243-fe7a37f91ede CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c4396f2-dfd8-4236-afbf-fd6343f050e6 CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbe2423-fb7f-4394-85e9-e6780dd4a889 CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3294a16-ad7b-4ea9-8ab3-db68b75aa5ad CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6309aa39-bb3a-4cb4-bf5f-3513d3e020a6 CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07a7346a-37bb-428a-9f68-0b0d17457fb0 CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488072cf-4538-4502-8573-e811cdfd4022 CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1b48a5f-5cac-4c3b-a9c2-a71017476555 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80306662-9111-4a8b-85a1-3094b7a0a6ee CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a14b88b-c743-42ab-8c10-d2442126e468 CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3e053d-3bb0-4a8f-950c-de6a554f6e95 CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8f2725b-ff85-4b0b-8029-ec44e2657b46 CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d14b9a-5aeb-4b89-99e1-4be4b6297fe7 CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4493e307-a96b-45e8-9bdd-fe07ad92eb33 CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b467ce36-4d2b-49bc-b838-df2773af969f CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12bba66c-c841-401c-b256-4d5d7f1113c3 CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca04ee7-a595-46f7-b3c6-00c0fd525786 CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65e303f8-d0c2-4da5-84ae-19dbbb48b934 CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb0775-6a0b-464b-95cd-ead577232cd0 CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff790a75-5beb-4e2a-a17f-cc0ad19009a1 CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25c46df-ed25-43b4-91fb-fb7733ca5f74 CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a04e28dc-c309-4f18-b832-e29c9c00c5ba CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4efe05c-fcc0-4700-bbe2-32b901aa7a7a CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81b89e9a-1579-487d-ac29-d9e0d0a471b5 CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de22f57-8d4f-435f-b8ec-198fd144f684 CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c7c1c31-708c-4d68-b87b-fa33f2054e49 CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3048cbc7-77d8-4af9-8fcf-85e384038e68 CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7318ae4b-1bb8-4fdc-a01b-a604c0aa7802 CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2bdf53-b450-4915-acf4-7e53309bd8de CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a56101-ed02-4a3b-ad8b-58488bbaa710 CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d976fb2-6d00-4b92-bb50-a3f68e36d62c CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3775d91b-9588-4c1e-a65d-595439b4b78f CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f015f4e3-e2d1-43eb-916a-4f845bc910ea CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87b40172-d01d-4329-931e-cbe869970024 CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96dbb02-ce1e-4105-94bc-a148e0cecec5 CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3fd2d68-1b7d-42d3-a79f-2d7cfd882db6 CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eafda6-6454-4701-b59e-7e6010f3a26d CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 596b7176-fd1f-42be-bca7-c4ae874b70da CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857a1f34-c87e-453d-b011-1c54827de642 CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43ff1ec3-c358-40c3-84d3-96f6d1809de0 CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6188429-553b-4f74-8bda-e5a9db5c0a96 CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e687b88-7a1a-4889-bb92-916360d0d908 CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3103fe20-8c7a-47c2-8f12-16524a810750 CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ad7490f-18af-490d-bee6-83bb14f4d13b CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55f194e-d668-4863-8788-bf536aed7223 CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7323e70-e390-4485-bb90-27b79ad735d4 CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30fd15b2-c8fd-467d-a84c-845667592c73 CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a6c1e9d-b8c2-4e7d-88e6-2349a4912267 CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480bc545-3379-46c3-93f5-290e85c1c25a CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 153eeff3-72cc-4388-8f8d-1c172591d2c0 CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d6f443-52fd-4db0-bc33-6f25ffc407ec CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 204de6a4-14b7-4e10-a5bb-275566c7a7e6 CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3359c705-3c95-420a-b566-938fc3ab2b57 CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57a48119-f7f4-42d5-8490-f1e08a4cc751 CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c14f456-0df6-40d6-994e-a6f160b2e217 CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9011166-69a0-46bd-99d1-0609360077e8 CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e666d7-451c-4ffa-bb66-ece285a2b0d1 CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c54f0356-e905-4a41-9abe-9b39e0323907 CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456993d7-f2f6-42bd-baaf-e37f55696ffd CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73e4a63b-bc42-4036-95a5-e5b701483027 CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37f0944-b2d4-46b4-9af3-079d2483d7f4 CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca2df6fb-6879-4e90-99f7-85f1689dfa36 CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe362d72-0caa-44fc-aaf1-b96b7bcf8952 CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c72616e4-0ea6-4309-b2c7-329558ce7028 CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5221d7-b8fc-488f-95a4-2d0dfb5cb454 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ca1def1-75c3-491c-9f44-b2bc4a16da9b CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8908fb0-33c6-4f23-b160-a98e30a4b65c CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f31ccf4a-30b5-4e55-8ac2-be7bf4aab9d8 CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085501a6-96d0-4890-bf93-4046cf8b19be CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf14a72d-854f-4227-af44-9ee458e554a6 CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6df5fa-cd3a-479c-b860-aa5f2cc9265d CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df1ae370-f5dd-4846-b6dc-0669ce0c1660 CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70a9e18-6168-428d-8df3-fa3ed090cda0 CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b22b199a-2769-4ee6-af6b-0f34a40b2e50 CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 745d9af6-1d08-4879-80d2-1cbdc12a834e CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a74e4f54-9145-4d7e-837c-187edcb7f34a CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6e7b5d-322a-4bd3-a3c8-cdbfd0155ed7 CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56077769-e280-4a15-9907-2f8068d20ea0 CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b648820b-5a9c-472b-bdfd-d09368a72598 CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e951f050-3d5e-44d0-a48e-03534cf121f6 CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7ef611-1ef5-42bb-b8a7-f6738870642c CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30cdea76-194a-40c9-9183-36adc0c28310 CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7f30cc-e8a8-472b-902e-4fa622a9d84a CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3983996b-9d17-45dc-a9cf-e2d5c4cf2703 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d63939-031e-4040-883d-7ec4485916a4 CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1c64da5-22f8-4c24-8e10-57733b82443f CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949c3569-0275-49f6-884c-9b4afac67d81 CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3e31b57-205c-42c3-b9b6-d0b4707ea6ad CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c095e6a-627e-4ff4-a2d8-e59a2ffa58eb CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4392929e-733b-46c5-931c-d4230f80a2b1 CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d9a578-b9dc-42fb-b8c0-cf72461f291b CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a61943cf-6c68-464b-8baa-ef196c3fef1d CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055cfc64-1d5d-431c-bb5d-326e600f0676 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0593008-936b-44ad-b28f-2c7386c48228 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37de1cbb-7d63-467c-8388-e586162f9853 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ab15fdf-a47b-44aa-9df8-982106862dca CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f78572-8ce7-44f4-bc5f-eca7c4d65058 CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10d6d724-aedd-4a08-980d-f25b54b85d0a CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fc3b6b-a0b4-41cc-b246-2bfbe8554a99 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c83d615-a4fc-4bfd-8236-098d7b2c0164 CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b209d67f-08ea-4460-a41d-31a81e3677f7 CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65196fbe-41ee-4634-b3bc-b1778a8c331f CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ce9bf2-8c1d-4f54-9fe2-2b0f43af56ff CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01d5d4ce-e539-4ebe-8dd6-b78ecb47a0a5 CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f5f06a-32e5-4d29-a88d-58baffc316ae CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66f6fd69-af5f-4b75-9ac5-54f36893e199 CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba7e261-484e-4b37-93dd-577aef2ff3c8 CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a565ce4-c348-45f3-b7df-c563d8da26e5 CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01bbdca6-126f-47f3-b46e-c5ca32cf42db CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5ba25fd-05c6-40cf-91a4-34829ff7741c CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10942d8-4b6c-4a7b-8d50-2fc4ee09b413 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba7f9721-05c5-4b92-b0ce-7e295e4a4ac7 CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7848e973-cab1-49fc-a6c8-9fe022c0f786 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 720b7f86-0a86-4b54-bdfa-02088ca58198 CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e0bad0-6ea4-4491-a526-3d2e54fd6599 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28154bc3-e588-4130-aad5-a6a34279e0fc CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daaa440c-4440-4d50-b710-cbff1571cff2 CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cb92808-2829-4a2a-8ed1-ed18ed1f1bb0 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793b595b-5834-42ad-b30b-5d1468750c60 CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5cde940-2fd8-4077-8d7a-6d951a11aba0 CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d95db6-6605-4c66-973b-6f006e8c234e CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb1afb7d-7634-4b76-b090-448ffb94b353 CLINVAR:441214 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7bacfd-d74b-4cf3-81e2-b0b83a6d2f94 CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb126491-f42c-442f-a942-de25db55a07a CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19460e0f-ab01-44ad-a228-a0226ada2dc3 CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eeed24e-d28c-4492-b909-ee8b4495e2f4 CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493e8d6e-ae6f-4884-a0ca-c84ee1054578 CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 020a912d-8db8-4bca-a918-e9ebe7ec3749 CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d9862d-3e3d-475b-a451-5b19a53254b7 CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4cbee92-5c3a-4dc7-b217-22d04ae6b8cd CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dabb21a-aa6b-4b90-8907-55541853d7eb CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe5bf1ff-21d1-496b-8c7a-f21f55e34539 CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81b1f9c-87f3-4206-ba33-55ab08506bfa CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3ad8170-fe60-4fb0-9bb0-01f5aa268140 CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e6d2c1-4cd5-4fdc-901e-68d06309bb13 CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25b383df-e387-421a-978d-e0f547a1080b CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4cdd39-9666-4b23-bb9d-411f19855b8b CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8700c83b-21fd-4a61-a6fd-9fb09a537304 CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6703227-cb22-4069-8b01-bd304933b8ae CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10d02b83-4463-458b-95dd-3681276bb7bc CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4158eee9-e2b2-4b46-873c-d8b3d4f14b72 CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b76482d-8ece-43f9-96fc-16324d027c33 CLINVAR:2635153 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00308a5-1c26-411f-8f9c-6bbc5fbe04e4 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42fa0e6e-13dc-429c-b6c9-81d2a78a19e6 CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35af9e1f-e4f5-4aea-931b-3254aa234c45 CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1a952fd-d8c6-43f9-a6ae-7923f983b5a7 CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b182c58-4301-4991-9924-39900ae0fb35 CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fa74cb-995f-49ef-92c0-8a7e0f94e342 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632e59b8-0c2e-486a-b6ba-49a954600b37 CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef96fe57-8a92-40c4-9678-71d418060867 CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f0a8e5-9209-4b6a-b5f2-4e90b2639aba CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b937d0a0-81be-487d-b5f3-74c9f6a5d1b6 CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0980f0a-354f-4d94-aae7-cc0432dff513 CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df5b6b6a-1892-4bd8-809b-c63e50d26b81 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a77a63-4c93-46da-9d31-a522bc6317f0 CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffe62d8c-4fc5-4e00-87d9-8c07b4b1f5b2 CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a4c0fd-52f7-4922-ad2a-a4cbd42e196d CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a643ee7f-c2b6-41b9-9d63-575e146e7226 CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ad905a-6099-4009-a7db-a73e72d4d77f CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02c34863-66e0-4362-b358-25ab2b40d634 CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bb635d-79ab-4d84-89d8-cf0ee109d625 CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f12ac93-2b48-4831-8f1c-59934ae04e1d CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e588aa10-34d7-45bd-bd54-e0c78ebd42a6 CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e0c26f5-93a0-4f66-85dd-61854ee4c0c3 CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597df0a1-0797-43ab-a0cf-2bb3314d2594 CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e0b7dfd-2ffb-4b02-99c1-1db8a033c006 CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22494844-18f6-4421-a534-12f8186b48c5 CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b01389e1-7721-4ba6-979e-93c49ea675f6 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a451cf9-e4ec-432e-80c5-4179778c1016 CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9102d67c-28f8-4b9e-a8ae-57c407b2ab9a CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24c006f-8584-4c80-b5e2-b0e374e257a1 CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0c45ecf-0ab8-4dc9-a667-47a4e27d63c3 CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4d7ba4-4d4b-4d0b-8ff9-b7a316fccc06 CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8da21b6c-0912-4e3e-8ca9-57b10f44e6a2 CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f802f6ce-46b1-4856-8275-43a51ad026d0 CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a045bdf7-07a1-4e24-ab53-613862f8d8f3 CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6e66ae7-173e-408e-9c02-433792b65109 CLINVAR:1933344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 536b0a48-0883-4dd5-ac8b-da558fe6a0fd CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c439caf-e173-4b47-aa1e-0ef599d6d7d7 CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa4604a2-dc6f-4552-a399-4a0ec05c1da8 CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fdfed9-6f12-46fb-90d6-e979fde969dd CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 175adc64-9ae4-4140-9ec8-e7d7a15881c1 CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d01a6f-a49a-4f7a-b297-5a4d4c7375f1 CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1acc68e-8ac1-47e7-8d7d-4c95fa0403ca CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f27c4c4-30dd-4d28-921a-e49e43f0a3a9 CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1762adb7-ca24-4b21-a1b7-5261eca9c03b CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53dcaf8a-c335-4a0b-b8e8-07053b83c144 CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d47761e2-b5e5-436a-8b3a-ee26e910c0b0 CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4518e9e6-ccb4-4d01-b55a-0b8c044ad478 CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d58a6a9c-4582-4c39-bc08-4d55174002a3 CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6fd4cb-2d65-4924-ac99-b4c8b0c7d850 CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2d375fb-76c3-4495-bef3-aedbf70b31fc CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1957899c-4e2c-4926-ae8e-5cbcdf71fcc0 CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 229b0bba-7d69-43d5-8ef7-1519f828f8ff CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3254dde1-28a2-4176-b5a0-23c1f4540c39 CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce965664-856d-4e05-9af1-4c71bb15c6f5 CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2974306e-ebb7-4e44-a0a2-0e9d2cc3d7dd CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c36a6f9a-ef77-45d1-80b3-11e679900459 CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52730925-5570-403b-9cfe-8c3d5a9757c0 CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7e27958-4f95-4433-b15e-8b7444f43583 CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b135c93-22db-4912-a123-86722086b74e CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5a88e33-8541-4072-9632-74c55383144d CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940d6ba5-2e98-40ae-b31e-4109818d1302 CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16116a45-3701-4515-acbe-c71fa1a95dd2 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64c2d92-0d4f-4c81-becd-10286fea1d66 CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1959b53d-31d5-4bea-b7c9-a94af64551a7 CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef73d590-d8d1-4f30-a0ab-0e55f64356d8 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71bbe36-1a77-452e-8c22-5ff395ed4c81 CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001b0e32-2727-40bd-bcbe-7cc8075b21e9 CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d493c3b-d485-4b71-b4d3-e84ac6be9613 CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb5bdee-8a6a-49d2-af75-7f5db7e47805 CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbb77278-227a-4fbe-8c75-420b9de586bf CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32493167-cebd-4d0a-9a56-8fc80f97aaab CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77a49813-4af9-453d-993d-444b5c2d84cc CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87ddce0-7b62-4749-90d7-1ffdaa463433 CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa7de3c3-f82c-4137-bd1f-b91856d288e5 CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bdd3207-630d-4c20-b5f8-cdefdec614a3 CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f4298dd-479e-4f67-bdc0-c6169ab727b3 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2761a09f-6eb3-4098-be2c-d847685c90bb CLINVAR:1958 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6c52d3a-a859-4f2b-b1ba-4cc83ad8429f CLINVAR:1958 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c753731-5a1d-4057-b89d-e1cdbae5b640 CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dab6f712-fdad-40d8-87c4-8a33a5369602 CLINVAR:10025 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc5b7cf-9526-4615-93a3-06d61146678a CLINVAR:1045150 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55f33aaf-a9e0-41a2-8e89-09d0fde213a7 CLINVAR:1045150 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f794e3e-ca1c-4608-8b7b-9a96bf28379b CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 964e3b2d-00ad-4b25-8adb-6be9f24cc595 CLINVAR:1322957 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7696d9-7c92-4f6a-9c89-69707e8bab07 CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01368573-32a6-40a9-8ae5-19bfbf272150 CLINVAR:1687091 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c280f6e-fbd9-4f3e-bee2-6ae1deaea49e CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c22f43-f815-41a1-b348-407d2b531f85 CLINVAR:554593 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b8b4c3-c615-421f-8c03-5b7c1427ca79 CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2bc5ec-a8e6-4d78-a6b5-1cfd7aa7bd83 CLINVAR:3639714 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b91a03-a8d8-4646-a404-602215888bad CLINVAR:553029 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2278d4c-2879-425f-9b00-f3bb5e6eb6ac CLINVAR:553029 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ca0b56-e5f7-4355-8dd1-d81f7db9cbaf CAID:CA355961926 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 581ff831-0a71-4060-9fa7-6a40d92ed28e CAID:CA355961926 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac99f3c-ebfd-4485-980d-1337005d4405 CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56f547ea-c1e6-4c39-93a9-8a1affdf239d CLINVAR:1076378 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b822138-20c2-4055-a446-13eb8e77c84a CLINVAR:2145829 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93ba307-845d-425e-b72e-d007a1fb0d6d CLINVAR:2145829 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69fcfd96-d49d-4000-b406-597b56058c99 CLINVAR:2184620 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e83dd9ba-3c59-42bb-b649-64b61a85e466 CLINVAR:2184620 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ff20c5-5cb3-4383-a0f9-3d4b633e43b3 CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c829d2a-f0b6-412e-a3b7-4e9a77891a8d CLINVAR:638077 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71813aa-22a2-4e56-9fa8-bfdc9587fd5e CLINVAR:1328979 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 316a752e-755e-4ad7-9997-139fe12c8f24 CLINVAR:1328979 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1fd214-b174-4575-82b4-dbbea3a07444 CAID:CA658760370 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1644dc4-7863-4c75-9218-dedf8613d4c4 CAID:CA658760370 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc82dae-78f2-4ca7-9b01-f2db87c66fe9 CAID:CA397317465 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea116c59-7484-4edf-a8c5-d667e17283e3 CAID:CA397317465 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f548bc-8747-478a-8d34-5c3f33866b45 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f05926ca-b52c-4245-8854-3fe8717c1c11 CLINVAR:1031446 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f638ccd-e298-4109-aadd-15e1f33b1cbd CAID:CA658820739 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad6a52c5-01ee-40de-bb10-796a92eac703 CAID:CA658820739 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb79e3e-4b02-47c5-90f4-4dd732edbd35 CAID:CA3250151382 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 359be4d5-6de9-406e-b76e-40a981b0c2c9 CAID:CA3250151382 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82f6f6e-5ee9-4a50-91c6-d540b4644f4f CAID:CA2580611803 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen adad83c9-2720-4fd8-854f-54952bfde5eb CAID:CA2580611803 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9acb68e-caaf-4ff1-89eb-d519d285e117 CAID:CA410677368 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41b28adc-5c72-49d3-bbe4-01ffdb457cdd CAID:CA410677368 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68ad416-3a66-478b-87c9-6a0b92116953 CLINVAR:1691233 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19b3d6d8-c259-4017-938f-80f88ba06559 CLINVAR:1691233 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f734e7e2-5249-4ac8-be5a-e414cec3f762 CAID:CA354447595 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55c987a-210f-45a8-835b-653d24bf0664 CAID:CA354447595 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96583050-c050-4c16-8e50-8337fe97ae1f CAID:CA354447724 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4257d639-8242-4974-93ff-1839a31cc64c CAID:CA354447724 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21937042-7ecc-4265-acbe-0da81498c666 CAID:CA354448412 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a05336c-1381-4379-8dc6-c4f424069dc4 CAID:CA354448412 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b22c95-75e0-4b32-88ca-26e49b0dc791 CLINVAR:1683228 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfd5504e-c6a1-4ca1-9d55-e59756bbf5ba CLINVAR:1683228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a06079-f450-4f76-87af-4a4e8fef32b0 CAID:CA2586965987 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 998a1d48-cd2f-4fb5-b643-33a5eb47c337 CAID:CA2586965987 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98160063-fc52-4205-b6ad-5bddc19fe7c2 CAID:CA2586965989 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1344adbc-2d03-4da6-97fc-c3f674e145d1 CAID:CA2586965989 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531804b2-fb28-49e9-8fdd-7725091b42a8 CAID:CA355963142 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5630a92f-588b-496e-808d-dbc393cbe217 CAID:CA355963142 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b2b73cc-d758-4cc1-8151-059b2847da6c CLINVAR:2577224 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2fcc556-c532-49b2-b583-477b40b86082 CLINVAR:2577224 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e291d97-ee74-45a9-8009-f9737f8dcffe CAID:CA414915827 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eae2ebac-8406-4d21-b804-f8e18ed09657 CAID:CA414915827 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d41d274-a0f2-4843-88f7-80c6fc7b4a06 CLINVAR:826488 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dd76520-c933-4427-b51c-4018c8ccd3f9 CLINVAR:826488 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51368db-ef41-41aa-ba9d-042a4488a32f CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a404356a-69ac-4a7b-83f7-b8fd6f606f4e CLINVAR:824232 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2614e674-5f86-4fbf-8dd6-9aae8c30930e CLINVAR:422414 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 462d3896-e5f8-410c-a3e4-a8601e6ff528 CLINVAR:422414 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f02388b-de81-4eb9-a5b9-6ceedd72d69c CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d3b9c35-af8a-4386-b40d-68583328b99e CLINVAR:2758378 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c130457-21f8-4951-934b-e1d46ddd2d8d CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90c614dc-69c3-44c6-b6c6-5437ab17b610 CLINVAR:376633 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1fa08a-d385-47af-98f8-09f33886aa1e CLINVAR:551723 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4c80144-f7a6-4df7-81e2-53c9a89f90b8 CLINVAR:551723 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9988963c-7e6f-403d-848c-cecb078ea4b4 CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b27ea61c-0fd6-41fb-b86d-cfb698ca4beb CLINVAR:208611 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea43f6f2-dcce-4e76-aa16-f8444b98ecf7 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c259045c-f4b6-4662-b659-a742237126d6 CLINVAR:94305 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906035c5-05a6-4f3e-8722-a458a199d38b CLINVAR:195748 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a0e5097-a342-4318-9920-58f2b0f4c7a1 CLINVAR:195748 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92255281-a2e3-4aec-ad9c-27194b9c45cc CLINVAR:496979 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a8a66d-b14c-43e5-b812-27a68458030c CLINVAR:496979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77aa62b5-f2d5-4a44-b7c3-eb9988190f66 CLINVAR:288397 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5896e449-abb9-4859-8f33-fbd7c4441ebb CLINVAR:288397 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f1db02-87fe-40e3-9bee-2886dee279a2 CLINVAR:2441135 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3029d2-3f3e-4140-87af-5174ddf03ca6 CLINVAR:2441135 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ae8694-5ff3-4b72-88e3-2b9cc1253e85 CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a64d900-a3d9-4559-8fe8-bbdf92593cd5 CLINVAR:217149 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf88bc0-d7a2-450c-8159-ffc2a1cc9140 CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a8683c4-4d31-4bb5-8365-7ec177c81690 CLINVAR:96679 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6849add-d08c-4f0b-84a4-af0962e60d44 CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8832f8f7-c4fa-4722-b382-3a0e9c75fae2 CLINVAR:813969 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f702250-c40f-4ec7-ae0c-6d1b8ef7e0c3 CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68ae32c8-fb2d-480e-ae12-e866ce4b3749 CLINVAR:281140 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01e67fe-9226-44aa-bf23-e99ed037f619 CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf0ee6af-6add-475d-ac01-3a9c9b37a629 CLINVAR:198495 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9c680d-d15c-40a6-88c3-e0b190447a75 CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 330e0287-4e41-4c2b-8008-5d7235c5144b CLINVAR:2441119 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3846eff1-dddc-4cfb-9921-d7bc4d0230c6 CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abe8cba1-4012-42c5-aca9-987cb4fa04c0 CLINVAR:288183 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719873b3-3736-436a-9146-9f907ee50062 CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5e3d714-a7f4-42f0-95ac-32ff31047bf7 CLINVAR:281954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ff93ad-a2d9-4568-9c89-9944f2dfe961 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da330e5d-0ea1-41cd-a299-6fd05a2fdf02 CLINVAR:545663 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5322f6d8-fbcc-4355-9611-bfff55f40194 CAID:CA2586964930 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b8bc0b5-1584-49f4-82ed-99a59843a4b4 CAID:CA2586964930 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e523b9c-41ab-49ea-841f-bb523e164ce2 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9146f8-3ed6-4076-a77a-2f5883973572 CLINVAR:545009 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e034c7-30c5-4a19-aec7-0c64def8b7ae CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa97a28e-6f4f-43c7-90e0-25768772ec94 CLINVAR:288442 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36fd6315-e00a-4b3d-a5c1-a2085c01add2 CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d99711ec-bcf9-4031-b1d4-838ea79a7ea5 CLINVAR:551236 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27d3b32-903a-4649-bccb-baccc17264dd CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9902733b-ceeb-4626-b62b-2ca71136431e CLINVAR:196175 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3998618-bab2-429f-a72c-6906f0018751 CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e8a946b-1459-4533-b46d-ea44689c199c CLINVAR:4067072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8201b7-fbc1-4443-a2db-3b2637e0f709 CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c54f320-cc16-4b59-ae50-9d4529bcc8a3 CLINVAR:94303 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e85ee0e-8070-427c-9289-0b70e9745a34 CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 366e3e86-f419-4ef2-bf5c-69d261b1a6f3 CLINVAR:282449 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f864bcee-0535-4ef9-a8d3-398917413cdd CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d955ab8-05cb-4802-95c1-1e81da90a28a CLINVAR:6676 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30de62e0-2017-4f7d-ad78-feb29ab0483d CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89fa7f29-43c5-452d-b2d3-a329ff818427 CLINVAR:2441144 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd89d45-49e7-4122-8fad-a7f4cbc1db76 CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 142bed63-122e-4f20-8058-3f3909ed66a9 CLINVAR:498954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f52f71d-23b2-4c13-b351-53f4062da79e CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80b513f5-f427-4c5f-997b-2951fe538d38 CLINVAR:1521979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5b7282-499d-4abe-962e-a0755573669b CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccd9113b-a832-4ee3-9c66-eb2cb87f1c1a CLINVAR:658470 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27364be8-0bc9-4855-b787-396fa2324e91 CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 938f2dbf-779d-4f59-a203-10821811221b CLINVAR:288830 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d5462a-973d-4b5f-bbc7-89b2e03b9bd2 CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfcfeadf-fb15-4f85-9697-bbd7940eb908 CLINVAR:2674972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbf3fda-93aa-4cfb-9959-351a10a41713 CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 413ec3b7-eeb8-44b9-b5aa-ddf629c30e29 CLINVAR:242527 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a9268b-ad80-4f58-bf93-fb8cb4df155c CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f26af9b1-5946-4010-bc62-f5c3b05df5af CLINVAR:567124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051e3e3b-a174-49c6-a569-298cf97213fc CAID:CA347220971 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 497fd618-7c91-48ab-b6e3-f2da53b8166a CAID:CA347220971 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083f30c5-f975-430d-985f-78591cd331f6 CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8c3d42b-cd1c-4575-a835-409268389393 CLINVAR:94336 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8347ff22-4ec3-4c5f-acf2-821324aec951 CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fc77f59-a1fb-4adb-9344-fb9e324b848c CLINVAR:283243 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4725d08-8cb7-4f5f-8a06-c4c94ca5243e CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0bcce30-a959-41c0-8169-298a582bbff6 CLINVAR:284471 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7299287-1565-4072-87a1-f1dd82ecfbaa CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb8bc1d8-379d-4770-8950-7c2adbc6b455 CLINVAR:283475 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1850d537-01e8-4c93-b653-d2c58e70b3c8 CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e5788e5-b867-4ada-a93a-9d9046df65d3 CLINVAR:858838 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc169cd7-7a61-446c-86af-b3b9e541c623 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 324d29f1-2c9f-44af-98c6-1fb6c0e7c2bf CLINVAR:17614 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91faca7b-0d5d-49e8-a27b-706674e3cacf CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40bbcf95-e045-4d3b-a7a5-7c45bc440343 CLINVAR:551477 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98aa1e31-b703-45e8-a75a-cdd78373acd4 CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 465c25aa-3fa3-4e53-bc7a-1efed4034186 CLINVAR:871348 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b390d48f-9921-4478-9ac0-273c6f6db9d1 CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f122a923-1201-4dd0-b6b5-8373d8eec217 CLINVAR:2163 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221bf91b-d52f-4164-99b8-ec5dd81599d0 CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed6dffe3-d224-4a1e-bf52-5ccc9a6a56f0 CLINVAR:280038 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1259eb-33e0-4424-90f4-f0e7b029d1de CLINVAR:1491619 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0796a88a-7a6e-4136-a792-38711e8ef1b2 CLINVAR:1491619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb670095-cc50-49f6-be3c-e615fe89735f CLINVAR:597829 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbd2aea5-43c4-48d1-8c9a-b5d6640e7431 CLINVAR:597829 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b02697-f1ab-4966-9c15-50d2949d9b2a CAID:CA343724244 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f3b2d9-6e03-4e0a-8708-a3847a9fcad1 CAID:CA343724244 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a66b2e-f958-4f91-9709-ec1ba7acac93 CAID:CA2649105995 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f58a91eb-7de9-435c-938b-b7fa7e3a1aed CAID:CA2649105995 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02d9676-196b-4f60-b604-b723822f5214 CLINVAR:99343 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 156e5603-e502-4148-8eaa-45c9b71302fc CLINVAR:99343 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4ac064-ee10-4c9e-a0a0-756e3a5cc4fe CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1da0b9-42c9-4b96-a8dc-717470b77bb1 CLINVAR:99476 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f448ee-b51a-4569-b722-ec47a8fff613 CLINVAR:650634 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ed0f8fe-d950-4c57-aa8f-81d2459b33b9 CLINVAR:650634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9238f9-25b6-4f81-98d1-3a13e18df202 CLINVAR:501312 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fb6cecc-e2a8-4044-a303-3b3e5294bf40 CLINVAR:501312 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9760da-b031-4dbc-9287-2e1e0ff3ccd4 CLINVAR:14210 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c36b08b9-0919-46b8-9ea9-542496922ab9 CLINVAR:14210 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6202003-14e8-4634-b4df-4f8b9f51f5d9 CLINVAR:1683999 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b339be1-af3a-4cf9-87cc-c05940515f22 CLINVAR:1683999 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37b8825a-447b-403f-9889-04ddd55e43cd CAID:CA2580612114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a95664d-c9cb-49db-a9dc-b3ba9b0e9083 CAID:CA2580612114 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3148a18a-8277-4525-b84a-e8e1424e9335 CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d25d9e3e-bc9a-4f3f-b9fd-3fb4d9969fb6 CLINVAR:585928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd17367-19e5-43bc-bedc-9c1114f5c91b CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d351701a-214a-4c72-83e2-6ff0785abf30 CLINVAR:3766052 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a6eb0a-316e-4807-b271-437524b22b5c CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 228ac7cc-b5bc-4c32-87c6-f7dab94204d3 CLINVAR:2136531 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0353b8a6-5568-4a6a-a633-d73eb8fb1b44 CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5297a37-dff5-4ba3-999d-6c4723a83cf6 CLINVAR:447422 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c001f671-a960-47bb-9ba3-6d09b3eccbc0 CLINVAR:1720715 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef7ec7cc-6dc9-4b64-b330-33c9759bfadb CLINVAR:1720715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05d87d7-5ac8-4ef5-a3cd-0100a1f87dfd CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 753ee3b8-528a-4287-94f8-2069d58a373d CLINVAR:2202780 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12428567-a1d6-4265-b248-13efc7ea52e3 CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6263899-a5eb-436c-9f8b-7bff1246a137 CLINVAR:2202779 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf934cf5-6f12-4a98-a47d-5377ee846e78 CLINVAR:1048145 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f8d906a-51c9-4ccf-92a1-22d0e1300e45 CLINVAR:1048145 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321c58b0-f7cd-4328-b7fd-4e03795d1086 CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84d755fd-a2d0-4c50-a698-1857a15a874e CLINVAR:99472 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deba378-333d-4007-b870-45374d7d9c8e CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3810ae66-6e18-44bf-8c8a-58afa291ad17 CLINVAR:1457683 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44b940f-4def-42cd-a3fa-f97d44bfb63e CLINVAR:1999524 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a81baa-a70f-464d-9089-a1571b8ac5a5 CLINVAR:1999524 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40a3c27-2eb9-4ce7-965d-3429cf07e864 CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a18b654d-acc2-4a32-9150-1fc584845608 CLINVAR:99428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbf0fd2-4373-4181-93c7-326afc67705b CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 676ce239-8995-404c-8171-fe7d9cf783a1 CLINVAR:18029 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792b903f-2ca1-4101-93a9-9fc9aa5f111a CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a55e9ed4-7ef5-4689-b5b9-2e82bf51db6f CLINVAR:2429353 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d25bd3d-5e79-4554-a368-d74c1f54c7e1 CLINVAR:18041 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1c248ed-2b37-40ff-bf0c-94bcf381e5ef CLINVAR:18041 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67da7175-98dc-4d68-9d6c-cde0ba6c17ab CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b4ee8cc-d05d-4cba-b798-df4bef488ce4 CLINVAR:18023 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6863b0-b039-434a-a0ff-48e5f90c4153 CLINVAR:1028786 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efa1f6a6-50f1-4f3d-aba5-2d8192d8cd61 CLINVAR:1028786 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1660104e-e747-4993-a280-a168adb9260c CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67cbed39-053d-418b-b7ad-156256d84768 CLINVAR:661362 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec93e674-68d1-497f-91ee-884845598232 CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d799676-6e23-4029-8e02-b280ccf9164f CLINVAR:618107 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f04033-e3ae-48d9-a20b-2675951cf19e CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba241f08-5029-4b20-909f-fe1c9b317f2f CLINVAR:627155 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f574640-f691-4738-a56e-ad2561f80207 CLINVAR:102486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19239230-d732-4afe-81b8-3564da389ca2 CLINVAR:102486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4757d498-2c57-492b-9808-fb5888618da1 CLINVAR:458078 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c16817a-a182-4175-bada-7cc822ac6dc1 CLINVAR:458078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae64f6f-3062-4fb4-bdfc-fde7d72a8b7c CLINVAR:590456 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8e752a4-95fc-4866-b9e9-8ac9324bab4f CLINVAR:590456 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f974e-a77d-472c-8177-37ebf9cbe492 CAID:CA2584893460 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 686b27cc-f551-41f9-986f-0caa30103711 CAID:CA2584893460 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267600d8-cf8f-41df-98b0-72b53dbef792 CLINVAR:2903463 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d7f6d45-d86c-4e2a-b2b3-4a1814336726 CLINVAR:2903463 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8449bbb5-e2a0-4905-a810-97e69446198b CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e154d1fd-577f-4f0c-bade-07d4907a44e7 CLINVAR:557150 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213ac6ad-bab2-4610-a803-67993baed06f CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f2b17aa-1950-4b83-9044-fb9e99689adb CLINVAR:556156 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca99c9b-23f5-4a18-92fd-8ed85d68f0cf CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc79083b-d9f2-480b-828c-d618204832c3 CLINVAR:1076379 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e15691-1428-491e-b6ca-702956cb49ad CLINVAR:554213 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77e18a02-7e03-478f-a0bf-850d1fe457f6 CLINVAR:554213 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87b0d79-d0d5-4a13-b549-985bd0671331 CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96677e26-87a2-4e4f-a935-d61f2ce6aee6 CLINVAR:550458 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5231b9cf-ee8a-422a-b543-0d6815f07ac0 CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3846ac95-833d-4d0a-bf10-05a5315d7bc0 CLINVAR:556184 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f104a5de-da37-4b57-9c48-9144abb560fb CLINVAR:440660 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f54d096-e2f5-407f-8171-90f03ef8040d CLINVAR:440660 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4ed43c-ecc6-4792-9f72-ac80c668559b CLINVAR:440604 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5999717-e95c-4326-b133-4b358a4bab71 CLINVAR:440604 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7eb8bd-2136-4217-80fe-563d8c0d83e4 CAID:CA3050953909 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ef1e554-8519-49a9-a027-c9a9818bd8ec CAID:CA3050953909 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e76d9e1-c285-4326-b48c-c89fbc1784c0 CAID:CA8314879 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 453af1e2-12a3-42f6-b17a-c0947a58c5b3 CAID:CA8314879 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0874e6-0615-4e73-b3f7-d6ab4cb4d490 CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01e8fc8f-83ad-4775-8668-d2f9ef7c7d56 CLINVAR:4151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df96e83-17d5-4b5a-9d78-635e8bc825af CAID:CA2580610935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6aa01b72-8257-467a-834f-e588c852c9da CAID:CA2580610935 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bd8683-a5b0-488a-a245-0a165ec08d8d CLINVAR:993015 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6c7f88c-d3a6-4ac4-9ac6-860da64a5f92 CLINVAR:993015 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49787afb-cec5-432d-8d60-609dee41c2f3 CAID:CA354450038 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88d56ef6-e4cc-4e45-999f-8ec0b27ef401 CAID:CA354450038 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8e3491-f6da-41de-95ee-da5ed5501497 CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d446535b-1f73-42c1-acd6-15c8fe52c827 CLINVAR:627039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3a11d2-b28e-4e9c-be7e-b7210b8f2f80 CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 401e81b9-98bf-4c28-8739-3d20d608dee2 CLINVAR:13531 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12323b71-0fcb-44e1-b817-266218b15a77 CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96047418-5786-43c8-adab-cc5555f1fe90 CLINVAR:4687494 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536df689-8de6-49cc-a540-4d243912e59f CLINVAR:52448 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e68ae31b-266f-4315-a5e1-48fb070ad89e CLINVAR:52448 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f91f55f-6797-4871-9c16-1e536c803ccf CLINVAR:55433 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b73b7b04-ca90-47df-b42e-fe3d092b5bcf CLINVAR:55433 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56dbc8e3-223b-4aca-93c5-e66b052b8b32 CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e58f385a-eaed-4830-8681-14593618f419 CLINVAR:232793 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1ef7e8-b7ac-43b3-82db-197fcb38c728 CLINVAR:3723841 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 306163a7-6a29-427a-a5d1-400f8e5d0eac CLINVAR:3723841 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5037aced-ae65-4dde-9ffd-4b5ef4c75348 CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8a34dda-c94f-4a06-842d-b28157ca8062 CLINVAR:36227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa943787-40bd-4792-9d09-a59ac01a9ccd CAID:CA367401653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cff3f3b-ce14-4a80-864e-a9e045ae7fc8 CAID:CA367401653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255ac470-ec8f-4519-b0c5-748e0cc5737d CAID:CA367401649 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf169d50-6df7-4260-b385-b8119859bae5 CAID:CA367401649 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c79caf-5c50-4d86-9631-716da0ec98c3 CLINVAR:972809 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 384b5ea7-3d82-402b-a8ba-b0a416a59190 CLINVAR:972809 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5552b9-834b-4e54-918b-f828e6291cf5 CAID:CA4239675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01c073df-0681-41bc-9d6c-3e71e6b5869b CAID:CA4239675 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be670e2-4261-49e5-bbf6-b2c3a39b8445 CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b3e2dae-8514-4a7c-959f-b44f6a6aecaa CLINVAR:447402 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9820d2d-e8f7-43ff-ac00-5c2f58604fce CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a924dad-c39b-4ff8-805e-47f29c3dc3e4 CLINVAR:418448 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12d8769-3c06-4105-a57c-b0869c18a675 CLINVAR:2709658 biolink:genetically_associated_with MONDO:0015974 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56b3a4bd-73ac-4ad1-b12b-09fc03252025 CLINVAR:2709658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8969cda4-bb97-4255-8ff5-b4c1979e02a0 CLINVAR:1005573 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24197480-865b-4191-9b0e-3480c1e4c165 CLINVAR:1005573 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b747591b-9794-45c7-b011-a40b68281a3d CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c94e82-966e-44de-9f4c-8e57d29100e7 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad6c6bd-37f7-4315-a35a-e6b732548418 CLINVAR:329073 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e45de4e0-7ce4-44f6-aa34-e7a0025ec1b6 CLINVAR:329073 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174e6d19-2943-4988-bf69-99111ed6d398 CLINVAR:2035105 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4d84a68-4c14-43b9-9077-9125885fa851 CLINVAR:2035105 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1a8e29-e261-42bb-aeab-df538d6bc852 CLINVAR:2865406 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8fc0ed-c428-44be-afe3-b5360c87e325 CLINVAR:2865406 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb691a5-81b1-448b-a8b5-f34324d514c2 CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 111b2c08-b9ee-489f-bb40-881103f0e862 CLINVAR:99219 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c35dab-ff77-4fc6-9bfc-c9eb0b219127 CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0455e7bd-fa3f-444d-adc4-b883155f754c CLINVAR:866229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab53373a-1029-4490-bf9f-0ea947425430 CLINVAR:1639209 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 851f74b5-03d6-4c7f-a98f-deef8bb94aa1 CLINVAR:1639209 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a74423-98c4-4c83-8f58-1d3e8fb35ff3 CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8aec38e5-cef7-4c65-bdfd-999c4d872589 CLINVAR:236129 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0ffc7d-50b3-4602-a77f-892343d2d87b CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25175258-02b3-4de1-8aa8-bc39ad8cfb39 CLINVAR:2664262 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013f0bd9-16b0-4c7b-a1e7-a476eeae65be CLINVAR:2151916 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80735413-4fba-4ec2-abf8-419a55bc4be7 CLINVAR:2151916 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aba4574-829c-4d71-8f2c-6fe561faffc7 CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 915cdfc9-ef48-435d-97ce-df35a8373296 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309325c0-aec9-47ee-8111-fea2212d5ff4 CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9589753c-0e8c-4cd1-87ad-941ae5544bcd CLINVAR:2440386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792328cf-9c2a-4888-bc82-efa0a8c3a44e CLINVAR:52999 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 006c3a85-2807-4456-9b3b-e722d76ba7c9 CLINVAR:52999 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deddef92-7cbe-45c1-a773-de7edd3336fb CLINVAR:517664 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24df5967-8a3f-4dcd-8a68-d44094c6b41b CLINVAR:517664 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6119f9d-d3ab-40cf-8ce0-ad8199398146 CLINVAR:635221 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29c9c008-62f8-4960-8a44-6bb36f7df961 CLINVAR:635221 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed7acb3-fd63-4dfe-a6bc-42df6be04539 CLINVAR:53101 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6470ebf2-532f-4218-b056-938fd6df2850 CLINVAR:53101 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422a753b-ef28-473e-b3ee-5ec0aa484e84 CLINVAR:67087 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbc83dee-3c3d-460c-9096-6c571199cf19 CLINVAR:67087 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd05be3-183e-40c8-9fb4-714a58a2a8ba CLINVAR:52936 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1df0d78a-7f24-4c42-9258-4368658eeac9 CLINVAR:52936 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d763aaa0-ef3e-401e-a03c-5a049ad98c79 CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 593cb182-4853-4f94-a287-ef316a806981 CLINVAR:44587 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6061a0ec-5c08-4248-8e19-d01446f0943d CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33c3241a-8840-4f0d-918d-0f1871436c1e CLINVAR:1723651 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c8256a-58c1-42e7-8172-7b0df1107374 CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f66e40e9-c2be-4ff2-958b-e6f90280d66c CLINVAR:13343 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f919db6-73b8-480f-a477-901e11ffd970 CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4e79b57-f47c-4fa2-b16f-717e2c817fff CLINVAR:13342 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23abb0e-8354-4478-92e5-d186663794b4 CLINVAR:560190 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a14e76-87eb-4d1f-b548-034239258be1 CLINVAR:560190 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c4c99b-bf1f-4259-bb45-ae95caab944d CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f5a9f28-eca3-4943-8fda-2f8180a5c43f CLINVAR:2229884 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c16a7f-ef6f-418c-9e9a-cad017e9c0bc CAID:CA2580612246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5690aa1a-d382-4afb-ba4b-263f07a61630 CAID:CA2580612246 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce256b6b-a663-4189-818a-a14e02561ad6 CAID:CA410676362 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6d22796-fae6-4020-afb8-3ede9cdf35e3 CAID:CA410676362 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acdc9e3-1139-42fb-95f0-e4b6676739e2 CAID:CA2695224137 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2377eaf9-5f1d-4679-b899-3f2bb86dd7ef CAID:CA2695224137 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91e29db-9933-42df-9d2d-6f4e9a3c249e CAID:CA410676379 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 323dcb66-79da-4e34-b599-aefd8c01f0e8 CAID:CA410676379 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471b7364-6063-4142-822f-3e2e6241d17c CAID:CA410676935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f4d8258-64c7-4343-acdb-8ccb001ae8dd CAID:CA410676935 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36039601-36d8-4b24-8a9b-bb281c5647bd CAID:CA410676943 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cd19086-9f4d-4f71-b09b-2770d529dabc CAID:CA410676943 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69e0401-e7a9-4b85-a4a7-9204e93f908b CAID:CA410677044 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 951f197d-9db0-4e14-b05c-27dbbb2e948c CAID:CA410677044 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30de7883-b0a5-4d99-aa4f-c1ce86d3a2a6 CAID:CA354447926 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afe9f894-ca20-45ec-89a6-e9ac2198d53d CAID:CA354447926 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16016a8f-9245-44d4-be10-b93ad9c32d26 CAID:CA8314714 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bafcb0b3-8970-403c-ba74-55c1cb245efd CAID:CA8314714 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601a52e4-4d82-4110-b120-45434d8ecdf5 CLINVAR:2570683 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4892d85b-9a75-4215-a1ea-c49dc8bf84e2 CLINVAR:2570683 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4818422b-b31f-4390-bec2-c1ef3fc1ae5f CLINVAR:1330694 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7debd0e-2665-4c0d-867a-9078c440554a CLINVAR:1330694 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29a5019-667d-49d8-8dd1-48b0b87f1247 CLINVAR:993126 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e1346b5-9f5e-435b-b797-d6291fc46b3b CLINVAR:993126 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb69fe0-7711-48fc-91b8-96808734e876 CLINVAR:801294 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fac19bc6-1e66-4790-91bb-dbe2e785bd21 CLINVAR:801294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c438ced-7253-4317-916d-ec980d625323 CLINVAR:36294 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a565d48-3390-45e3-b4c1-e57b52efb5e1 CLINVAR:36294 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d6ed10-2b47-478a-a626-f6cc78aef1b4 CLINVAR:869245 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eb625e4-f171-444a-91d8-8da08e9b3dd4 CLINVAR:869245 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e938c373-0410-43d7-92d3-75683cef16c6 CLINVAR:15447 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55ba8b5a-0fa8-4b24-8e5a-50acdbb8952c CLINVAR:15447 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0570c250-078f-44ec-8a72-e633049780ba CLINVAR:15488 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48856511-3202-45a4-9736-764e018e1c54 CLINVAR:15488 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728625d6-c1c2-471c-8c72-832a6414d05e CLINVAR:15401 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88bdb405-f009-4e96-a95c-fc88bf781f9d CLINVAR:15401 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86af653f-fe39-4ec7-91d9-9aab4ca696bf CLINVAR:799593 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec2ababd-549a-42f4-b66b-5f18ecbd702f CLINVAR:799593 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22eea84d-9c79-431c-b501-a4b1c59811c6 CLINVAR:36312 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8812b688-e78a-4a30-bdc2-78b65464b1bc CLINVAR:36312 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f46bde8a-5607-4bf4-87c5-f49083708330 CLINVAR:15464 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3bb367b-f898-47d2-a14b-49d59cc002f1 CLINVAR:15464 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22631a5-e1f2-41fc-949a-379ecc248532 CLINVAR:15458 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5fe4677-a39f-4e7b-ba0f-291168d0f364 CLINVAR:15458 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6f8b8e-455d-4a3b-acad-c6bc7d221371 CLINVAR:15483 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62af8cbf-7927-41f1-b316-71b46036170a CLINVAR:15483 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c3716b-16f1-4a1a-bcb7-47354cac7cc7 CLINVAR:15457 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f99ccf7-320e-467d-96e0-c3a4c874e5a3 CLINVAR:15457 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ce1e34-815d-4eef-94f2-3d2208a2284f CLINVAR:15454 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9494ee43-aeab-4598-b69a-ae2eb9163ee7 CLINVAR:15454 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13ff9b0-7ef2-4ec3-9dbb-798cd841053d CLINVAR:15405 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60019cca-234c-490d-9395-37bdc27aebcc CLINVAR:15405 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0245a31-668d-4892-9957-0418974eb154 CLINVAR:15239 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc15097-a39b-4a44-a70a-eebf84db8189 CLINVAR:15239 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba87a97-19d9-403a-affa-e4c9d3f01710 CLINVAR:15470 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68eac9fb-5da1-49fe-ae53-78e08c4332b4 CLINVAR:15470 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae8c786-0889-4aa3-b2e7-221b88913036 CLINVAR:1684030 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55945a32-7254-4f47-964d-0f807aa462a2 CLINVAR:1684030 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25677d9b-d6a9-4a0e-b842-6f735abb194b CLINVAR:100409 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9f85aa4-59d5-4b04-8d61-341321060428 CLINVAR:100409 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03cd8067-754e-44d5-840f-5b83b5151d13 CLINVAR:507028 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea3beb35-2e85-4a07-838b-adea9e1ca3e0 CLINVAR:507028 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e13c6f7-37d2-45f2-aaf9-f5f35f5bfa87 CLINVAR:15692 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b719e163-6713-441e-b25f-cb16811cb5bf CLINVAR:15692 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505a2ed1-8ed7-4db2-9738-bd183f5812de CLINVAR:15624 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22e5058d-53d0-4465-8227-f189e1145f58 CLINVAR:15624 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b22afb-c333-4f79-a00e-5d71f0b01e87 CLINVAR:804215 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87071456-b88c-4233-920d-8fe50edb6c2a CLINVAR:804215 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d3cac1-5249-4b55-aa56-c932b3b31520 CLINVAR:439112 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7557655b-dc3b-4091-a2a4-47fce224099f CLINVAR:439112 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6be683b-8ebc-4518-ae8f-d8724cafcacb CLINVAR:15647 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed16e9db-4773-4148-ac8e-a764efc59fa6 CLINVAR:15647 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0785d665-6a52-47b6-a2d0-b7c8b21d4d14 CLINVAR:439111 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3237e3a9-5ddd-431a-a200-feb4d4f4bb90 CLINVAR:439111 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7648bda6-1af5-4032-9485-1d70268afd9b CLINVAR:869219 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be48b447-21cb-4b80-96fa-59260e0bdd3d CLINVAR:869219 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166971a3-d7f7-450f-bb4c-5abfba0e3f73 CLINVAR:15651 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8980a88-ca2b-4590-ac34-4849e72018dc CLINVAR:15651 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f5b83b-4222-461a-ac14-0e3114f57745 CLINVAR:375746 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37c3f8ee-e603-4e39-9d7c-a3ab81ef9348 CLINVAR:375746 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ba9833-0e39-4643-aeeb-de9405fa61db CLINVAR:15690 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5855b8c-f303-4235-80e2-436c5422746e CLINVAR:15690 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b5e816-1bb0-4955-93c7-a851a68418cc CLINVAR:1209788 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a3234f9-3e23-43d0-a4fd-74a9f4e9fc2c CLINVAR:1209788 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ee77f3-f826-4bfc-94e7-374606c650c7 CLINVAR:2675763 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a775568e-1a46-4483-b676-5ba19a62024b CLINVAR:2675763 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d4b410-6141-4216-baaa-c600002b848e CLINVAR:4032 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9924e677-b11b-43da-8b4a-0fc5294127ce CLINVAR:4032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2782ef1f-b1d8-44f8-b998-1ad731cd9560 CLINVAR:370483 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65b08e46-69d0-4f6e-ac72-d409eb75b45d CLINVAR:370483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9e7268-a3cb-4951-9019-a6312acb4af6 CLINVAR:1190471 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdaa75b0-4d88-4525-9edd-cc40514e6265 CLINVAR:1190471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc38bf7-f3c0-4662-91ec-1561754e50d5 CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa8cc32f-7217-4ec2-91eb-4e1391ccc8b5 CLINVAR:140553 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 407b8631-0142-449d-b70c-7456a06e768e CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcb8cac8-54a1-43f8-b188-3324541b03d2 CLINVAR:1323589 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a299459-c07d-4a6c-af22-8a8c6096f4fd CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5490ee9-a466-4f93-8665-ef19fc6856b8 CLINVAR:283179 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874447fb-9ddc-463b-b049-7986d53581b0 CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72bff183-d6e5-4401-94bc-3a381bbbf5ee CLINVAR:284122 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0f5857-72b3-4a48-9a58-517fa938732b CLINVAR:285927 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fa64d02-d726-4e5a-b402-f25d52da29dc CLINVAR:285927 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85809e2-e298-41b3-b3c4-b86dadff2027 CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee2ee6b4-e1cd-4d0e-a8bb-c4599f43ae2c CLINVAR:92407 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d284ee9c-be7c-45dc-821d-71a3c70c895e CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28037ec0-2e66-431b-9511-048a91a83389 CLINVAR:92414 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290debf2-d5ae-42d2-9dc4-dcca5984cdcf CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b60f7817-4b5f-4a72-9fcc-3733b04cf7e9 CLINVAR:869485 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446dae16-d6db-4c22-82dd-18d6acc91d78 CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4e05422-68b5-4d8f-800b-6a64e7b424e9 CLINVAR:2165 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde593f5-271a-4fe6-a276-2d3eaf35152f CLINVAR:197403 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b51c1465-baaf-480c-90dd-e824b885b8ef CLINVAR:197403 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1620f07d-6062-4e53-9489-2c7ceef1c79d CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2eb5c2a6-4892-42e9-9d54-982f474d3ee0 CLINVAR:92405 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080c1762-addf-477b-8e91-ea1c663a8d1f CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cc48ac8-9c7a-43d5-85db-c8fe113a4dd3 CLINVAR:96685 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733c479d-7442-4444-b211-60ac088174ed CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b881089-5582-4ff6-a255-367ffd3f31ee CLINVAR:282681 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8421242d-6188-4804-b166-5e8d12bbe15a CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e729db8e-d56f-46c1-8ed9-7ea3e0d456d5 CLINVAR:652571 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f454c68-54a9-4314-9997-63f54e4c4110 CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05fc8188-984c-41e1-973c-91504eaaa784 CLINVAR:1180840 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35542e3-48b5-4ce5-af56-bbf71d993ba0 CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3365984-4802-4f3c-9846-72f8d58bd9d4 CLINVAR:210563 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e47cf6-89a5-42a8-8f01-53b8797faa73 CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a4da2f-2ee8-422a-9164-ccd912ff3b4e CLINVAR:128570 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b61ca6-e43a-4042-91bc-e2e4c6f76857 CLINVAR:1407049 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 038814f1-162e-4d66-aafe-f5890617f15f CLINVAR:1407049 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbc534a-7b60-4064-9b2c-292eef927b80 CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f0a6345-b73c-4e08-aabb-1ff509de7459 CLINVAR:233573 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c7f75f5-c985-401d-bff2-5f43c6712de2 CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2c56005-b236-427f-a021-c5d8c05c0bb1 CLINVAR:3047 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 960f7a8d-77fe-4ecc-91fb-efedc3861726 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47df4b49-c3d1-4052-bbbe-423d6ab700a5 CLINVAR:644144 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03acea5-5c5a-4aab-a170-0b66de4cc4f6 CLINVAR:490724 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cc08350-efd6-4030-acbe-d145e2d2cd9d CLINVAR:490724 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a306da-a4b6-49ad-9de5-b0249956d52f CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35443285-f674-4b2c-a952-4fd7b645985d CLINVAR:870645 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4031dd36-873d-46a2-9cdd-c68284865937 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 797e5273-dc08-4b76-a539-6721538ee604 CLINVAR:1054111 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e20c9d-38ea-4a37-a70e-ec70c26d144d CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92e7259a-0200-4e36-8156-1667d89d4b75 CLINVAR:187501 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d504a0-7fd7-4dd9-9db4-a525d15a2f60 CLINVAR:490685 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd0c030-ed1d-4828-8ba3-47c524d84645 CLINVAR:490685 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e8b63c-f32d-4ffc-b6bf-387d6c8ee48b CLINVAR:230152 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6cb2187-e3ff-4504-b7e5-2c06e97c610b CLINVAR:230152 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53837d5f-2fdf-4ab5-84a3-894ecdfe860a CLINVAR:219787 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29776c01-e108-48f4-825a-9d931dbe7543 CLINVAR:219787 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751694bc-aa67-47b4-89d4-5b4b9cf0ffbd CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33bd30eb-72f6-43dd-9920-e6a26fbda118 CLINVAR:453684 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190fcc58-2d00-4c9a-81e7-c4ffcb02e395 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7275b32-df27-484e-9b20-3182bc9b4f23 CLINVAR:140823 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c67c8c-484a-4a7d-962a-9704953444a9 CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a866424c-e66d-43e0-b9e4-2210d98215e1 CLINVAR:407464 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d5d363-51dc-4598-96ba-2b9f81f06a03 CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 418780f3-5ce3-4976-874e-e9bb62943acd CLINVAR:3148196 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fa495d-c286-4f3c-b861-f620d5fea918 CLINVAR:1488412 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e49ce18-2391-4755-9c8f-5288d35cd873 CLINVAR:1488412 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25dbea6e-30c5-4afb-985d-db4efae2b812 CLINVAR:304110 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 847db2a6-dcd1-496f-abfb-a2325d7d8a3a CLINVAR:304110 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9881833-9794-451b-acc0-54d349377aea CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5429100-eafb-4500-9a1d-9d3a04496c2f CLINVAR:497131 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee9f4cb-80d9-4192-8b28-d3c402c049ad CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5906f5ac-4b39-4992-aa68-a138bd7aac36 CLINVAR:3677022 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b822b0a5-331e-4521-bd17-6d3ad8ea8bb6 CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a67623a3-d3a5-445b-9d22-f483b7a96a35 CLINVAR:94355 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4947bf5e-f11f-473a-83e5-69b6e2fc6ab6 CAID:CA414435987 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb58f6f-fb36-458e-a970-050aaabee82a CAID:CA414435987 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595b0f11-57d9-471b-aaad-8b778f82fbfd CAID:CA414435980 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a45c282-388a-4e5f-bd7b-9cbfe63e78e6 CAID:CA414435980 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693cdc11-3159-4fed-9eac-e6428cd5809a CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8a9e88a-6dab-4607-8915-efefa7a0d282 CLINVAR:618643 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bff117-e27e-4161-9ad6-68e78bc21f05 CLINVAR:425730 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1390c384-2988-4b39-b10b-c2ae26584d94 CLINVAR:425730 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a6c075-10e8-4604-a233-4806466be597 CLINVAR:425732 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a875d15-3eb6-4753-bb0a-95995ba8cb41 CLINVAR:425732 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e8201b-6959-4a37-aca7-09c360da3ea6 CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81b6cc7d-1439-415c-a4e7-cc3230f46d4e CLINVAR:1163208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910f1a91-3a7d-41b6-92b4-9de28170cc28 CAID:CA414435594 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3243672-f2fe-4bb0-92d2-844e1430299b CAID:CA414435594 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b595d79c-508d-4083-877f-d51854f60234 CAID:CA10567758 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd83dcf8-83f0-4f0f-88b9-a11cd4c46a4c CAID:CA10567758 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a85e49-8942-463a-92bc-26ed250717b3 CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 807e0dfd-203a-45a0-9585-d79bae44f77d CLINVAR:627400 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1e4161-c2e5-4eaf-ad6e-6395884dba64 CLINVAR:548686 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59b7d2b6-cf4b-41fe-abf6-fe6e52d6b136 CLINVAR:548686 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addfc548-86b6-4c7e-ab3e-91f3565e5392 CLINVAR:1164394 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f7d2406-703f-483f-b5b9-ee013d81b9b6 CLINVAR:1164394 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb3d074-0021-41f3-ada2-a01786e1b20c CLINVAR:11317 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78259b02-0dfd-428e-97d2-4c25bdb6c0ad CLINVAR:11317 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5a1c22-73d3-4693-a18a-33cb6f74ea9f CLINVAR:92325 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e9c6d51-84a2-4568-a746-27f5e605e3c8 CLINVAR:92325 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4126b8-2eb0-4e23-aa3b-3cf6b1fe323b CLINVAR:218422 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 456c9aa9-c425-4e58-acef-0113d5d5cea1 CLINVAR:218422 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f90f65-376d-4c1a-944b-3dcb6792894b CAID:CA386295701 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ed529ba-b84c-4186-ba71-fbdae87496b2 CAID:CA386295701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786ed7d1-c508-449d-a82e-1e925c25194c CLINVAR:583 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19efcaf0-5cad-419c-9625-ee4c9092f259 CLINVAR:583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06b35a7-fefa-43d5-a7a0-132072ac8515 CLINVAR:1504560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25bc6152-be0f-4d86-b51b-2a4ebc28b6bd CLINVAR:1504560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29a5164-3762-4cd9-bf2b-7fc98af13c10 CLINVAR:449353 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 299181fb-31ed-4618-b42d-35062fc97344 CLINVAR:449353 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47e61e5-1aff-42c7-829d-ce93a50545e3 CLINVAR:665836 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8aaacab5-5840-45a4-85f8-42611c7c755f CLINVAR:665836 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac81932-101a-425a-95e1-cbda744822a5 CAID:CA415098539 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b92f41f6-161f-4258-aff8-7f24f74aa2ca CAID:CA415098539 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b24894-e8c5-4663-a463-fc64171ceb02 CAID:CA415099400 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63a2da96-b426-4a22-9496-4d0bf20e5d26 CAID:CA415099400 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9ab8e7-990d-48ac-800b-98b2aabc7729 CAID:CA415100409 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aaab13d7-84ef-4edd-be1e-171c79c32fe3 CAID:CA415100409 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0810cd-1955-4257-9ff6-53eb2545fd5b CLINVAR:930240 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a5e9fc4-89b4-46d6-9629-e48c899395ed CLINVAR:930240 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fa33a5-b308-4765-8ef8-313675eaecff CLINVAR:11310 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 893fdd4d-fff7-4a16-ad9c-2323f51e3e34 CLINVAR:11310 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c90fc07-969d-4ef8-977a-4bc7ad960132 CLINVAR:11312 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0183975-0fef-4068-8d5e-2800d1a01140 CLINVAR:11312 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6251a31e-f61f-4ecd-8792-e8c6a1bf2ea3 CLINVAR:1357576 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 121283a7-3418-41c9-bc20-44caef77a2c4 CLINVAR:1357576 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ea7523-c968-4760-a31b-33551a4755ab CLINVAR:458646 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce9c088a-adee-47cb-b5d0-11fceb559fe9 CLINVAR:458646 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d6676e-270a-4dfb-b99e-2bdaa2deeff7 CLINVAR:872971 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9fca9d1-e017-46aa-a735-e71f87d80417 CLINVAR:872971 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcec5df-b3cc-48de-aa8e-f010207a70a0 CLINVAR:974948 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7233027-dcfe-4cc3-b5f5-b1ad33d60f00 CLINVAR:974948 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4549a3-3732-4ebd-b279-c42ffb744d5a CLINVAR:1172887 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 632d878a-18c8-41b8-89cb-81147c67816b CLINVAR:1172887 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030bfc87-9ecc-49cf-85fa-ebf584c5a19e CAID:CA341292216 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27832b09-4356-44e1-91c8-fb564fd72805 CAID:CA341292216 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f423156-11ac-4022-a9b0-c6c81e014e6e CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09491c1a-a2e3-4572-9d3e-e1d9528d5d1b CLINVAR:2021273 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93039e2b-07aa-4de6-85ea-5d8dd2f1490a CAID:CA341289425 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11477ca8-4a35-45f6-9947-9c2a1b2ca2ce CAID:CA341289425 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fd6052-3300-4f8b-889a-0ed24ced92b4 CAID:CA2588340115 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c08aea55-2eef-4e4c-8232-13bc2068641e CAID:CA2588340115 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58106a6e-bb0e-4f8c-9fb0-67409abc3ca0 CLINVAR:4710906 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f32f665c-4f06-4762-a60f-19f46e1814e9 CLINVAR:4710906 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f499b8-9c83-4297-875d-57a77dd921af CLINVAR:837244 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3786122f-c39e-43ee-ac96-763602a5367c CLINVAR:837244 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1c9f09-928e-40be-bc8f-50cf15b39a6c CLINVAR:3724631 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e93602c-e8f2-407c-ab00-8157dcfcc7de CLINVAR:3724631 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa6ff97-8a55-4a2a-904b-70a40e2805f1 CLINVAR:914586 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae8c9076-07f5-47ca-81f6-e610cf2d9b29 CLINVAR:914586 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d52426-9a13-42e5-8822-102e57ec7d75 CLINVAR:420900 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28865545-cf86-4b6f-aab0-291644e548bd CLINVAR:420900 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a553eae-05b0-4d7b-8ea5-6e2fb5187f82 CLINVAR:528335 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f06283ba-5d35-4387-a2cf-777408bd9fd3 CLINVAR:528335 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd74d493-bede-4bdd-8cba-c30da7c37fe9 CLINVAR:1410844 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30b318f4-4559-424d-82e8-a7ff1ac3f406 CLINVAR:1410844 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6298dbe-35a9-4550-b1d9-76ee647e7dcd CLINVAR:851448 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b4dc24f-cda7-4c73-a360-968ad25c4897 CLINVAR:851448 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81479742-2b9a-402f-a067-38a47e1005e9 CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ea4fc14-813f-4ca9-807a-203726218ca6 CLINVAR:1420866 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a73717-1670-49c9-87b2-5dd6e9a815dd CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bfa1c72-4d19-46d2-85a0-a89153d6b99a CLINVAR:219532 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ffffb0-d64c-486f-8417-2c3648c71c6f CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a9cd03f-2c6f-457c-b5cc-c1c723d4c69e CLINVAR:934410 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ac81ff-fbc2-4423-ac9a-5d6176632913 CLINVAR:480759 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66265fd1-c4fc-4f47-a5c4-93227c7cda8d CLINVAR:480759 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8dfcfa-904d-4bd2-b484-a1d16f45cb2d CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9edf5162-3243-4200-9bb4-f44f3447f175 CLINVAR:486555 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d132bbb-4fe8-4303-8a26-04d57998f6fb CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63831060-98cf-4c3f-b12e-5d8a0a6d04dc CLINVAR:988616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc35db4-65ef-42bd-8e4a-2a771aecc7a6 CAID:CA2695213741 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd090520-fc94-4f38-9f38-177063c2e5ce CAID:CA2695213741 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf6cb11-522c-4503-b747-79c7617923df CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aacb6177-3615-4848-993f-3f772e151e46 CLINVAR:1072413 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122d97a0-56a5-4f12-9cfb-4e3ed3b74c7e CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2ada5c2-b410-42af-855c-626bbb3dc810 CLINVAR:13148 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61f9012-927e-4a48-892d-11cf06586836 CAID:CA376060150 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10d209b9-a695-48e6-9583-75f91bd6ec5b CAID:CA376060150 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fa48a7-2975-4f66-861f-f7f46e80ea9a CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 140febb9-b799-4f3f-8c04-13eec96bfc20 CLINVAR:624584 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ebcd64-9708-48d6-8aff-180cf8989504 CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99f31e60-4328-487f-82d0-1b1be7d91f53 CLINVAR:488725 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edc9ae9-0dea-450c-8802-e6ce4af55c58 CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5b47072-21a6-4476-8289-17d80268687b CLINVAR:2943710 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0e49c7-d4d1-4fc0-b39f-236c2535e0cb CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69ca3c97-1fc3-4681-8c50-548b45476589 CLINVAR:36714 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3f8739-332a-44cc-aa32-d5d73f934cd3 CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fee1457-31d8-484a-b093-f0efa74d9f24 CLINVAR:13146 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441ba3fb-6055-4d9c-8587-364cfe86716a CAID:CA386958852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5e86ce1-d640-406e-9f8d-4e22534c2226 CAID:CA386958852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9325c63-0aff-4112-a4d8-1df977e71fae CAID:CA386966502 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10a428ed-1c9a-430b-a95d-fa4f10bfde14 CAID:CA386966502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870e78d7-640f-4d3e-9e8d-004640f2fb24 CLINVAR:562363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62603f5d-b90b-40ee-a605-2ab71ea71bde CLINVAR:562363 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5127f947-6881-4e94-9e08-be4eb5252f7e CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b139ce8d-8651-42c7-97e2-f0074adeb8a6 CLINVAR:972775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13a4516-7d0e-4ba7-a5a1-e0208312ea65 CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40daa925-6c6f-4a37-b2c6-6d1d34a37651 CLINVAR:804857 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9d4d37-1552-41bf-8422-fab1ac3f036b CAID:CA4239432 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e4802c8-57b2-4ae3-a7a4-ac67aa5f38a7 CAID:CA4239432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28cdfb9e-8f7c-46e3-8d74-5d23ffa288a3 CAID:CA4239511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab5ac2c4-ef20-4ed8-aeb7-65d77ae29c60 CAID:CA4239511 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a12205-27c4-44c5-8901-daf757e4daa0 CAID:CA4239428 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a067301-94b8-4261-8500-39ded2c97fdf CAID:CA4239428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2732e5bc-c28f-4eb8-9843-de826242007b CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58392c76-41c1-4e3e-bf6e-548f11bbc6a9 CLINVAR:1770532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6066cf4b-1dd2-4c98-91e9-a2e28568c3c9 CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43ca2350-8159-4520-abfb-857e763871fb CLINVAR:2734986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c10883f-ad07-43d3-9ce1-d9dc944b7f37 CAID:CA367396913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beb1c29d-3cfe-4b91-82dd-90de6780ec41 CAID:CA367396913 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3027a6d9-7fcb-4c33-a1d2-593f25568ba7 CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 115a1e75-f9b7-498d-a176-2598480408e5 CLINVAR:1761162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df59fb08-2238-4100-a397-6801cbbff172 CLINVAR:3720744 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1d3c7ad-23e3-45d9-8c77-dd30c2c5007f CLINVAR:3720744 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d5c270-145a-4ab2-94a8-2b487962c036 CAID:CA367398185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87047d75-bf49-456e-ba65-d598a2975181 CAID:CA367398185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e2d88d-c2e9-458a-a022-4fd136a28af9 CAID:CA367398898 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e22e605-f9cf-438e-9cff-7dd0f779299b CAID:CA367398898 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16c0306-cbb6-4cff-b759-94dccffa3575 CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f0180e1-4052-40f3-a8a6-c752ad21a3c2 CLINVAR:3030720 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b26a22-7f76-44bd-9b77-c6dd5523b4d0 CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91d3b3ad-7d86-425f-a76b-92470431cf7d CLINVAR:918070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ceca39-9ee7-42f0-87cf-453a2026d327 CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7853d187-0a63-47ce-9a0d-055825dda30a CLINVAR:635988 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f200e75-ef16-4361-8aaf-bbb938af93f1 CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15380899-1db4-46c5-98c5-de04d5918254 CLINVAR:92870 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707971a4-1663-45df-8bd0-f108018007ac CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f445dfd-d5ca-472f-abdc-4154b99dd1e1 CLINVAR:236114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen